Berkala Paralyses

Berkala Paralyses
Author: Naganand Sripathi, MD, Director, Neuromuscular Clinic, Department of Neurology,

Henry Ford Hospital Pengarang: Sripathi Naganand, MD, Direktur, Klinik neuromuskular,
Departemen Neurologi, Rumah Sakit Henry Ford
Contributor Information and Disclosures Kontributor Informasi dan Pengungkapan
Updated: Nov 25, 2010 Diperbarui: Nov 25, 2010
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Overview Ikhtisar
Differential Diagnoses & Workup Diferensial Diagnosa & hasil pemeriksaan
Treatment & Medication Perawatan & Pengobatan
Follow-up Tindak lanjut
References Referensi
Keywords Kata kunci
Introduction Pengantar
Background Latar belakang
The heterogeneous group of muscle diseases known as periodic paralyses (PP) is characterized
by episodes of flaccid muscle weakness occurring at irregular intervals. Kelompok heterogen
penyakit otot yang dikenal sebagai melumpuhkan periodik (PP) yang ditandai dengan episode
kelemahan otot lembek terjadi pada interval yang tidak teratur. Most of the conditions are
hereditary and are more episodic than periodic. Sebagian besar kondisi keturunan dan lebih
episodik dari periodik. They can be divided conveniently into primary and secondary disorders.
Mereka dapat dibagi dengan mudah menjadi gangguan primer dan sekunder.
General characteristics of primary PP include the following: (1) they are hereditary; (2) most are
associated with alteration in serum potassium levels; (3) myotonia sometimes coexists; and (4)
both myotonia and PP result from defective ion channels. Karakteristik umum PP primer
meliputi: (1) mereka turun temurun; (2) kebanyakan berhubungan dengan perubahan kadar
kalium serum, (3) myotonia kadang berdampingan, dan (4) baik myotonia dan hasil PP dari
saluran ion rusak.
Pathophysiology Patofisiologi
A clinically useful classification of primary periodic paralyses, shown in Table 1, includes
hypokalemic, hyperkalemic, and paramyotonic forms. Sebuah klasifikasi klinis yang berguna
melumpuhkan periodik primer, ditunjukkan pada Tabel 1, termasuk bentuk hipokalemik,

hyperkalemic, dan paramyotonic.
Table 1. Tabel 1. Primary Periodic Paralysis Primer Kelumpuhan Berkala
Open table in new window Buka tabel di jendela baru
[ CLOSE WINDOW ] [ CLOSE WINDOW ]
Table Tabel
Sodium channel Sodium

channel
Calcium channel Kalsium
channel
Potassium channel Kalium
saluran
Hyperkalemic PP (HyperPP) Hyperkalemic PP (HyperPP)

Hypokalemic PP (HypoPP2) Hipokalemik PP (HypoPP2)
Paramyotonia congenita Paramyotonia congenita
Andersen-Tawil syndrome Andersen-Tawil syndrome

Hyperkalemic PP or hypokalemic PP* Hyperkalemic PP atau PP
hipokalemik *
*The deficit was described in 2 small families and has not been substantiated by others. 1 , 2 *
Defisit tersebut dijelaskan dalam 2 keluarga kecil dan belum dibuktikan oleh orang lain. 1 , 2
Sodium channel Sodium
Hyperkalemic PP (HyperPP) Hyperkalemic PP (HyperPP)
channel
Calcium channel Kalsium
channel
Potassium channel Kalium
saluran
Hyperkalemic PP or hypokalemic PP* Hyperkalemic PP atau PP
hipokalemik *
*The deficit was described in 2 small families and has not been substantiated by others. 1 , 2 *
Defisit tersebut dijelaskan dalam 2 keluarga kecil dan belum dibuktikan oleh orang lain. 1 , 2
The physiologic basis of flaccid weakness is inexcitability of the muscle membrane (ie,
sarcolemma). Dasar fisiologis dari kelemahan lembek adalah inexcitability dari selaput otot
(yaitu, sarcolemma). Alteration of serum potassium level is not the principal defect in primary
PP; the altered potassium metabolism is a result of the PP. Perubahan kadar serum kalium
bukanlah cacat utama dalam PP primer; metabolisme kalium berubah adalah hasil dari PP
tersebut. In primary and thyrotoxic PP, flaccid paralysis occurs with relatively small changes in
the serum potassium level, whereas in secondary PP, serum potassium levels are markedly
abnormal. Dalam PP primer dan thyrotoxic, flaccid paralysis terjadi dengan perubahan yang
relatif kecil di tingkat kalium serum, sedangkan di PP sekunder, kadar kalium serum yang nyata
abnormal.
No single mechanism is responsible for this group of disorders. Tidak ada mekanisme tunggal
bertanggung jawab untuk kelompok gangguan. Thus, they are heterogeneous but share some
common traits. Dengan demikian, mereka heterogen namun berbagi beberapa ciri umum. The
weakness usually is generalized but may be localized. Kelemahan biasanya umum tetapi bisa
dilokalisasi. Cranial musculature and respiratory muscles usually are spared. Cranial otot dan
pernapasan otot biasanya diselamatkan. Stretch reflexes are either absent or diminished during
the attacks. Stretch refleks baik tidak ada atau berkurang selama serangan. The muscle fibers are
electrically inexcitable during the attacks. Serat otot elektrik inexcitable selama serangan.
Muscle strength is normal between attacks but, after a few years, some degree of fixed weakness
develops in certain types of PP (especially primary PP). kekuatan otot adalah normal antara
serangan tetapi, setelah beberapa tahun, beberapa derajat kelemahan tetap berkembang di
beberapa jenis PP (PP terutama primer). All forms of primary PP (except Becker myotonia
congenita [MC]) are either autosomal dominant inherited or sporadic (most likely arising from
point mutations). Semua bentuk PP primer (kecuali myotonia congenita Becker [MC]) baik
autosomal dominan warisan atau sporadis (yang paling mungkin timbul dari mutasi titik).
Voltage-sensitive ion channels closely regulate generation of action potentials (brief and
reversible alterations of the voltage of cellular membranes). saluran ion Voltage-sensitif erat
mengatur potensi generasi tindakan (perubahan singkat dan reversibel dari tegangan membran
selular). These are selectively and variably permeable ion channels. Ini adalah selektif dan
variabel saluran ion permeabel. Energy-dependent ion transporters maintain concentration
gradients. transporter ion Energi-tergantung mempertahankan gradien konsentrasi. During the
generation of action potentials, sodium ions move across the membrane through voltage-gated
ion channels. Selama generasi potensial aksi, ion natrium bergerak melintasi membran melalui
saluran tegangan-gated ion. The resting muscle fiber membrane is polarized primarily by the
movement of chloride through chloride channels and is repolarized by movement of potassium.
Membran serat otot istirahat terpolarisasi terutama oleh pergerakan klorida melalui saluran
klorida dan repolarized oleh pergerakan kalium. Sodium, chloride, and calcium channelopathies,
as a group, are associated with myotonia and PP. Natrium, klorida, dan kalsium channelopathies,
sebagai kelompok, yang berhubungan dengan myotonia dan PP. The functional subunits of
sodium, calcium, and potassium channels are homologous. Sub-unit fungsional natrium, kalsium,
dan saluran kalium yang homolog. Sodium channelopathies are better understood than calcium
or chloride channelopathies. Sodium channelopathies lebih baik dipahami daripada
channelopathies kalsium atau klorida. All forms of familial PP show the final mechanistic
pathway involving aberrant depolarization, inactivating sodium channels, and muscle fiber
inexcitability. Semua bentuk PP keluarga menunjukkan jalur depolarisasi mekanistik akhir
melibatkan menyimpang, menonaktifkan saluran natrium, dan inexcitability serat otot.
Discussion in this article primarily addresses the sodium, calcium, and potassium
channelopathies as well as secondary forms of PP. Pembahasan dalam artikel ini terutama alamat
natrium, kalsium, dan kalium channelopathies serta bentuk sekunder PP. Chloride
channelopathies are not associated with episodic weakness and are discussed in more detail in
the articles on myotonic disorders. channelopathies Klorida tidak berhubungan dengan
kelemahan episodik dan dibahas secara lebih rinci dalam artikel di gangguan myotonic.
Muscle sodium channel gene Otot saluran natrium gen
The sodium channel has an alpha subunit and a beta subunit. Saluran natrium memiliki subunit
alfa dan subunit beta. The alpha subunit of the sodium channel is a 260-kd glycoprotein
comprising about 1800-2000 amino acids. Subunit alfa saluran natrium adalah glikoprotein 260kd terdiri sekitar 1800-2000 asam amino. This channel is highly conserved evolutionarily from
Drosophila to human. Saluran ini sangat kekal evolusi dari Drosophila ke manusia. It has 4
homologous domains (I-IV) that fold to form a central pore, each with 225-325 amino acids. Ia
memiliki 4 homolog domain (I-IV) yang flip untuk membentuk pori-pori pusat, masing-masing
dengan 225-325 asam amino. Each domain consists of 6 hydrophobic segments (S1-S6)
traversing the cell membrane. Setiap domain terdiri dari 6 segmen hidrofobik (S1-S6) melintasi
membran sel. The main functions of the channel include voltage-sensitive gating, inactivation,
and ion selectivity. Fungsi utama saluran termasuk gating tegangan-sensitif, inaktivasi, dan
selektivitas ion. The extracellular loop between S5 and S6 dips into the plasma membrane and
participates in the formation of the pore. Loop ekstraseluler antara S5 dan S6 dips ke dalam
membran plasma dan berpartisipasi dalam pembentukan pori-pori. The S4 segment contains
positively charged amino acids at every third position and functions as a voltage sensor. Segmen
S4 mengandung asam amino yang bermuatan positif pada setiap posisi ketiga dan fungsi sebagai
sensor tegangan. Conformation changes may occur during depolarization, resulting in activation
and inactivation of the channel. perubahan konformasi mungkin terjadi selama depolarisasi,
mengakibatkan aktivasi dan inaktivasi saluran. The cellular loop between domain III-S6 and
domain IV-S1 acts as an inactivating gate. Loop selular antara domain III-S6 dan bertindak
domain IV-S1 sebagai gerbang menonaktifkan.
The sodium channel has 2 gates (activation and inactivation) and can exist in 3 states. Saluran
natrium memiliki 2 gerbang (aktivasi dan inaktivasi) dan dapat ada di 3 negara bagian. At rest
with the membrane polarized, the activation gate is closed and the inactivation gate is opened.
Saat istirahat dengan membran terpolarisasi, aktivasi gerbang ditutup dan gerbang inaktivasi
dibuka. With depolarization, the activation gate opens, allowing sodium ions to pass through the
ion channel and also exposing a docking site for the inactivation gate. Dengan depolarisasi,
gerbang aktivasi terbuka, yang memungkinkan ion natrium melewati saluran ion dan juga
memperlihatkan sebuah situs docking untuk gerbang inaktivasi. With continued depolarization,
the inactivation gate closes, blocking the entry of sodium into the cell and causing the channel to
enter the fast-inactivation state. Dengan depolarisasi melanjutkan, gerbang inaktivasi menutup,
menghalangi masuknya natrium ke dalam sel dan menyebabkan saluran untuk memasuki negara
cepat-inaktivasi. This inactivation of the channel allows the membrane to become repolarized,
resulting in a return to the resting state with the activation gate closed and the inactivation gate
opened. Inaktivasi ini memungkinkan membran saluran untuk menjadi repolarized, sehingga
kembali ke keadaan istirahat dengan aktivasi gerbang ditutup dan gerbang inaktivasi dibuka.
Two inactivation processes occur in mammalian skeletal muscle: Fast inactivation involves
terminating the action potential and acts on a millisecond time scale. Dua proses inaktivasi
terjadi pada otot rangka mamalia: inaktivasi Cepat melibatkan mengakhiri potensial aksi dan
bertindak pada skala waktu milidetik. Slow inactivation takes seconds to minutes and can
regulate the population of excitable sodium channels. inaktivasi Lambat memerlukan beberapa
detik untuk menit dan dapat mengatur populasi saluran natrium bersemangat.
Sodium channel mutations that disrupt fast and slow inactivation are usually associated with a
phenotype of HyperPP and myotonia, where as mutations that enhance slow or fast inactivation
producing loss of sodium channel function cause HypoPP. mutasi yang mengganggu saluran
Natrium inaktivasi cepat dan lambat biasanya berhubungan dengan fenotip HyperPP dan
myotonia, sedangkan mutasi yang meningkatkan inaktivasi lambat atau cepat menghasilkan
hilangnya fungsi saluran natrium menyebabkan HypoPP.
Mutations of the sodium channel gene ( SCN4A ) have several general features. Mutasi gen
saluran natrium (SCN4A) memiliki beberapa fitur umum. Most of the mutations are in the
"inactivating" linker between repeats III and IV, in the "voltage-sensing" segment S4 of repeat
IV or at the inner membrane where they could impair the docking site for the inactivation gate.
Sebagian besar mutasi berada di linker "menonaktifkan" antara mengulangi III dan IV, di S4
segmen "tegangan-sensing" dari mengulang IV atau pada membran dalam mana mereka bisa
merusak situs docking untuk gerbang inaktivasi. The clinical phenotype differs by specific amino
acid substitution and, while some overlap may occur between hyperkalemic PP, paramyotonia
congenita (PC), and potassium-aggravated myotonias (PAM), the 3 phenotypes are generally
distinct (as described below). Fenotip klinis berbeda dengan substitusi asam amino dan spesifik,
sementara beberapa tumpang tindih mungkin terjadi antara PP hyperkalemic, congenita
paramyotonia (PC), dan potasium-diperparah myotonias (PAM), 3 fenotip umumnya berbeda
(seperti yang dijelaskan di bawah). Nearly all mutant channels have impaired fast-inactivation of
sodium current. Hampir semua saluran mutan merugikan cepat-inaktivasi natrium saat ini. Most
patients are sensitive to systemic potassium or to cold temperature. Kebanyakan pasien yang
sensitif terhadap kalium sistemik atau suhu dingin.
Two populations of channels exist, mutant and wild-type; the impaired fast-inactivation results in
prolonged depolarization of the mutant muscle fiber membranes and can explain the 2 cardinal
symptoms of these disorders, myotonia and weakness. Dua populasi saluran ada, mutan dan wild
type, cepat-inaktivasi hasil terganggu pada depolarisasi berkepanjangan dari membran serat otot
mutan dan dapat menjelaskan gejala kardinal 2 myotonia ini, gangguan dan kelemahan. In
hyperkalemic PP, a gain of function occurs in mutant channel gating, resulting in an increased
sodium current excessively depolarizing the affected muscle. Dalam PP hyperkalemic,
keuntungan fungsi terjadi pada saluran gating mutan, yang mengakibatkan natrium meningkat
saat ini berlebihan depolarizing otot terpengaruh. Mild depolarization (5-10 mV) of the myofiber
membrane, which may be caused by increased extracellular potassium concentrations, results in
the mutant channels being maintained in the noninactivated mode. Depolarisasi ringan (5-10
mV) dari membran myofiber, yang mungkin disebabkan oleh meningkatnya konsentrasi kalium
ekstraseluler, hasil dalam saluran mutan dipertahankan dalam modus noninactivated. The
persistent inward sodium current causes repetitive firing of the wild-type sodium channels,
which is perceived as stiffness (ie, myotonia). Natrium batin terus-menerus saat ini menyebabkan
pembakaran berulang-ulang dari saluran sodium wild type, yang dianggap sebagai kekakuan
(yaitu, myotonia).
If a more severe depolarization (20-30 mV) is present, both normal and abnormal channels are
fixed in a state of inactivation, causing weakness or paralysis. Jika depolarisasi lebih parah (2030 mV) hadir, baik saluran normal dan abnormal adalah tetap dalam keadaan inaktivasi,
menyebabkan kelemahan atau kelumpuhan. Thus, subtle differences in severity of membrane
depolarization may make the difference between myotonia and paralysis. Dengan demikian,
perbedaan yang halus dalam keparahan depolarisasi membran dapat membuat perbedaan antara
myotonia dan kelumpuhan. Temperature sensitivity is a hallmark of PC. sensitivitas Suhu adalah
tanda dari PC. Cold exacerbates myotonia and induces weakness. Dingin memperparah myotonia
dan menginduksi kelemahan. A number of mutations are associated with this condition, 3 of
them at the same site (1448) in the S4 segment. Sejumlah mutasi yang terkait dengan kondisi ini,
3 dari mereka di tempat yang sama (1448) di segmen S4. These mutations replace arginine with
other amino acids and neutralize this highly conserved S4 positive charge. Mutasi ini mengganti
arginine dengan asam amino lain dan menetralisir muatan positif yang sangat lestari S4.
Mutations of these residues are the most common cause of PC. Mutasi residu ini merupakan
penyebab paling umum PC. Some of the possible mechanisms responsible for temperature
sensitivity include the following: Beberapa mekanisme yang mungkin bertanggung jawab untuk
sensitivitas temperatur antara lain meliputi:
Temperature may differentially affect the conformational change in the mutant channel.
Diferensial suhu dapat mempengaruhi perubahan konformasi dalam saluran mutan.
Lower temperatures may stabilize the mutant channels in an abnormal state. Turunkan
suhu dapat menstabilkan saluran mutan dalam keadaan normal.
Mutations may alter the sensitivity of the channel to other cellular processes, such as
phosphorylation or second messengers. Mutasi dapat mengubah sensitivitas saluran ke
proses seluler lain, seperti fosforilasi atau utusan kedua.
Most cases of hyperkalemic PP are due to 2 mutations in SCN4A, T704M, and M1592V.
Mutations in the sodium channel, especially at residues 1448 and 1313, are responsible for
paramyotonia congenita. Kebanyakan kasus PP hyperkalemic disebabkan oleh 2 mutasi dalam
SCN4A, T704M, dan M1592V. Mutasi di saluran natrium, terutama pada residu 1448 dan 1313,
bertanggung jawab untuk congenita paramyotonia. A small proportion of hypokalemic periodic
paralysis cases are associated with mutations at codons 669 and 672 (HypoPP2). Sebagian kecil
dari hipokalemik kasus paralisis periodik berhubungan dengan mutasi pada kodon 669 dan 672
(HypoPP2). In HypoPP2, sodium channel mutations enhance inactivation to produce a net loss of
function defect. Dalam HypoPP2, natrium meningkatkan saluran inaktivasi mutasi untuk
menghasilkan rugi bersih sebesar cacat fungsi.
Calcium channel gene Kalsium channel gen
The calcium channel gene ( CACNL1A3 ) is a complex of 5 subunits (alpha-1, alpha-2, beta,
gamma, and delta). Saluran kalsium gen (CACNL1A3) adalah kompleks dari 5 subunit (alpha-1,
alfa-2, beta, gamma, dan delta). The skeletal muscle dihydropyridine (DHP) receptor is located
primarily in the transverse tubular membrane. The dihydropyridine otot rangka (DHP) reseptor
terletak terutama di membran tubular melintang. The alpha-1 subunit has binding sites for DHP
drugs and conducts the slow L-type calcium current. The alfa-1 subunit memiliki situs mengikat
bagi obat DHP dan melakukan kalsium L-tipe lambat saat ini. It also participates in excitationcontraction (EC) coupling and acts as a voltage sensor through its linkage with the ryanodine
receptor of sarcoplasmic reticulum (ie, calcium release channel). Hal ini juga berpartisipasi
dalam eksitasi-kontraksi (EC) kopling dan bertindak sebagai sensor tegangan melalui keterkaitan
dengan reseptor ryanodine dari retikulum sarkoplasma (yaitu, kalsium saluran pelepasan). Any
changes in the membrane potential are linked to intracellular calcium release, enabling EC
coupling. Setiap perubahan dalam potensial membran terkait untuk melepaskan kalsium
intraseluler, sehingga kopling EC. Point mutations in DHP receptor/calcium channel alpha-1
subunit cause hypokalemic PP (HypoPP1). Point mutasi pada reseptor DHP / kalsium alpha
channel-1 menyebabkan subunit hipokalemik PP (HypoPP1). Two mutations of CACNA1S gene,
R528H and R1239H, are responsible for most cases of hypokalemic PP. Dua mutasi gen
CACNA1S, R528H dan R1239H, bertanggung jawab atas sebagian besar kasus PP hipokalemik.
The physiological basis of disease is still not understood, but is more likely due to a failure of
excitation rather than a failure of EC coupling. Dasar fisiologis dari penyakit ini masih belum
dimengerti, tapi lebih cenderung karena kegagalan eksitasi daripada kegagalan kopling EC.
However, hypokalemia-induced depolarization may reduce calcium release, affecting the voltage
control of the channel directly or indirectly through inactivation of the sodium channel. Namun,
hipokalemia-depolarisasi induced dapat mengurangi pelepasan kalsium, mempengaruhi kontrol
tegangan pada saluran secara langsung atau tidak langsung melalui inaktivasi saluran natrium.
Insulin and adrenaline may act in a similar manner. Insulin dan adrenalin bisa bertindak dengan
cara yang sama. Mutations of the calcium channel gene have some similarities to SCN4A
mutations. Mutasi gen calcium channel memiliki beberapa kesamaan dengan mutasi SCN4A.
Mutations modify channel inactivation but not voltage-dependent activation. Mutasi
memodifikasi inaktivasi channel tetapi tidak tergantung pada tegangan aktivasi. Recordings from
myotube cultures from affected patients revealed a 30% reduction in the DHP-sensitive L-type
calcium current. Rekaman dari budaya myotube dari pasien yang terkena menunjukkan
penurunan 30% dalam kalsium tipe L-DHP-sensitif saat ini. Channels are inactivated at low
membrane potentials. Saluran yang tidak aktif pada potensial membran rendah.
Calcium channel mutations cause a loss of function manifested as a reduced current density and
slower inactivation. mutasi saluran Kalsium menyebabkan hilangnya fungsi diwujudkan sebagai
densitas arus berkurang dan inaktivasi lambat. How this inactivation is related to hypokalemiainduced attacks is not understood. Bagaimana inaktivasi hal ini berkaitan dengan hipokalemiaserangan induksi tidak dipahami. At least in R528H mutation, a possible secondary
channelopathy occurs, tied to a reduction in the ATP-sensitive potassium current from altered
calcium homeostasis. Setidaknya dalam mutasi R528H, sebuah channelopathy sekunder yang
mungkin terjadi, terkait dengan penurunan sensitif kalium ATP arus dari homeostasis kalsium
diubah. The lower currents associated with CACNL1A3 mutations could slightly alter
intracellular calcium homeostasis, which could affect the properties and expression of K +
channels, particularly KATP (ATP-sensitive potassium channel) belonging to inward rectifier
class of channels. Arus bawah yang terkait dengan mutasi CACNL1A3 sedikit bisa mengubah
homeostasis kalsium intraselular, yang dapat mempengaruhi sifat dan ekspresi K + channel,
khususnya KATP (sensitif saluran-kalium ATP) milik kelas penyearah ke dalam saluran. Insulin
also acts in HypoPP by reducing this inward rectifier K + current. Insulin juga bertindak dalam
HypoPP dengan mengurangi penyearah ini ke dalam K + saat ini.
Voltage sensor charge loss accounts for most cases of HypoPP. Tegangan sensor account rugi
biaya untuk sebagian besar kasus HypoPP. Sodium and calcium channels have homologous
pore-forming alfa subunits. Natrium dan saluran kalsium telah subunit alfa homolog porimembentuk. Point mutations in CACNL1A3 and SCN4A affect argentine residues in the S4
voltage sensors of these channels. mutasi Point di CACNL1A3 dan SCN4A mempengaruhi residu
Argentina di sensor tegangan S4 dari saluran ini. Arginine mutations in S4 segments are
responsible for 90% of HypoPP cases. 3 mutasi Arginine di segmen S4 bertanggung jawab untuk
90% kasus HypoPP. 3
Glucocorticosteroids cause HypoPP by stimulating Na + K + ATPase mediated by insulin and
amylin. 4 Glukokortikosteroid menyebabkan HypoPP dengan merangsang Na + K + ATPase
dimediasi oleh insulin dan amylin. 4
Potassium channel gene Kalium saluran gen
Potassium channel mutations are seen in Andersen-Tawil syndrome. mutasi saluran Kalium
terlihat pada sindrom Andersen-Tawil. The triad of dysmorphic features, periodic paralysis, and
cardiac arrhythmias characterizes Andersen-Tawil syndrome. Tiga serangkai fitur dismorfik,
paralisis periodik, dan aritmia jantung ciri sindrom Andersen-Tawil. This syndrome is associated
with mutations in the KCNJ2 gene. 5 The KCNJ2 gene encodes the inward-rectifying potassium
channel Kir2.1. Sindrom ini dikaitkan dengan mutasi pada gen KCNJ2. 5 Gen KCNJ2
mengkodekan kalium perbaikan saluran-ke dalam Kir2.1. Potassium channel mutations in
KCNE3 are reported to cause hypokalemic PP, but this has not been substantiated. mutasi saluran
Kalium dalam KCNE3 dilaporkan menyebabkan PP hipokalemik, tetapi hal ini belum
dibuktikan.
Frequency Frekuensi
United States Amerika Serikat
The frequencies of hyperkalemic periodic paralysis, paramyotonia congenita (PC), and
potassium-aggravated myotonias (PAM) are not known. Frekuensi kelumpuhan periodik
hyperkalemic, congenita paramyotonia (PC), dan-kalium myotonias diperburuk (PAM) tidak
diketahui. Hypokalemic periodic paralysis has a prevalence of 1 case per 100,000 population.
hipokalemik paralisis periodik memiliki prevalensi 1 kasus per 100.000 penduduk.
International Internasional
Not known Tidak diketahui
Race Ras
Thyrotoxic PP is most common in males (85%) of Asian descent with a frequency of
approximately 2%. Thyrotoxic PP adalah paling umum pada laki-laki (85%) dari keturunan Asia
dengan frekuensi sekitar 2%.
Clinical Klinis
History Sejarah
All periodic paralyses (PPs) are characterized by episodic weakness. Semua melumpuhkan
periodik (PP) yang ditandai dengan kelemahan episodik. Strength is normal between attacks.
Kekuatan normal diantara serangan. Fixed weakness may develop later in some forms.
kelemahan tetap dapat berkembang kemudian dalam beberapa bentuk. Most patients with
primary PP develop symptoms before the third decade. Kebanyakan pasien dengan PP primer
mengalami gejala sebelum dasawarsa ketiga.
Hyperkalemic periodic paralyses Hyperkalemic periodik melumpuhkan

o Age at onset is younger than 10 years. Umur saat onset lebih muda dari 10 tahun.
Patients usually describe a sense of heaviness or stiffness in the muscles. Pasien
biasanya menggambarkan rasa berat atau kekakuan pada otot. Weakness starts in
the thighs and calves, which then spreads to arms and neck. Kelemahan dimulai
pada paha dan betis, yang kemudian menyebar ke lengan dan leher. Proximal
weakness predominates; distal muscles may become involved after vigorous
exercise. kelemahan proksimal mendominasi; otot distal dapat menjadi terlibat
setelah olahraga berat.
o In children, a myotonic lid lag (lagging of upper eyelid on downward gaze) may
be the earliest symptom. Pada anak-anak, sebuah lag tutup myotonic (tertinggal
dari kelopak mata atas pada pandangannya ke bawah) mungkin gejala awal.
Complete paralysis is rare and some residual mobility remains. kelumpuhan
Lengkap jarang dan beberapa mobilitas sisa tetap. Respiratory muscle
involvement is rare. Keterlibatan otot pernapasan jarang. The attacks last less than
4 hours and in the majority of cases, less than 1 hour. Serangan terakhir kurang
dari 4 jam dan dalam sebagian besar kasus, kurang dari 1 jam. Sphincters are not
involved; any bowel and bladder dysfunction is due to abdominal muscle
weakness. Sphincters tidak terlibat, setiap disfungsi usus dan kandung kemih
disebabkan kelemahan otot perut.
o Weakness occurs during rest after a period of strenuous exercise or during fasting.
Kelemahan terjadi selama beristirahat setelah periode latihan berat atau selama
puasa. It also may be provoked by potassium, cold, ethanol, or stress. Mungkin
juga terprovokasi oleh kalium, dingin, ethanol, atau stres. It may be relieved by
mild prolonged exercise or carbohydrate intake. Ini mungkin lega dengan latihan
ringan atau berkepanjangan asupan karbohidrat. Patients also may report muscle
pains and paresthesias. Pasien juga dapat melaporkan nyeri otot dan parestesia.
Between attacks, clinical and electrical myotonia is present in the majority of
patients. Antara serangan, myotonia klinis dan listrik hadir pada sebagian besar
pasien. Some families have no myotonia. Beberapa keluarga memiliki myotonia
tidak. Clinically apparent myotonia is seen less than 20% of patients, but
electrical myotonia may be found in 50-75%. Myotonia klinis jelas terlihat kurang
dari 20% pasien, tetapi myotonia listrik dapat ditemukan pada 50-75%. Interictal
weakness, if present, is not as severe as in hypokalemic PP. Interictal kelemahan,
jika ada, tidak begitu parah seperti di PP hipokalemik.
Hypokalemic periodic paralyses Hipokalemik periodik melumpuhkan
o This can be divided into HypoPP1 (calcium channel mutation) and HypoPP2
(sodium channel mutation). Hal ini dapat dibagi menjadi HypoPP1 (mutasi
saluran kalsium) dan HypoPP2 (mutasi natrium channel).
Severe cases present in early childhood and mild cases may present as late as the
third decade. kasus berat hadir dalam anak usia dini dan kasus-kasus ringan dapat
hadir hingga akhir dekade ketiga. A majority of cases present before age 16 years.
Sebagian besar kasus ini sebelum usia 16 tahun. Weakness may range from slight
transient weakness of an isolated muscle group to severe generalized weakness.
Kelemahan bisa berkisar dari kelemahan transient sedikit kelompok otot terisolasi
untuk kelemahan umum yang parah. Severe attacks begin in the morning, often
with strenuous exercise or a high carbohydrate meal on the preceding day.
serangan berat mulai di pagi hari, seringkali dengan latihan berat atau makan
karbohidrat yang tinggi pada hari sebelumnya. Sometimes, the time between
premonitory symptoms to full-blown attack is in order of minutes. Kadangkadang, waktu antara gejala pertanda untuk menyerang besar-besaran adalah
dalam rangka menit. Attacks may also be provoked by stress, including infections,
menstruation, lack of sleep, and certain medications (eg, beta-agonists, insulin,
corticosteroids). Serangan juga dapat dipicu oleh stres, termasuk infeksi,
menstruasi, kurang tidur, dan obat-obatan tertentu (misalnya, beta-agonis, insulin,
kortikosteroid). Patients wake up with severe symmetrical weakness, often with
truncal involvement. Pasien bangun dengan kelemahan simetris parah, seringkali
dengan keterlibatan truncal.
Mild attacks are frequent and involve only a particular group of muscles, and may
be unilateral, partial, or monomelic. serangan ringan sering terjadi dan hanya
melibatkan kelompok tertentu otot, dan mungkin sepihak, parsial, atau
monomelic. This may affect predominantly legs; sometimes, extensor muscles are
affected more than flexors. Hal ini dapat mempengaruhi terutama kaki, kadangkadang, otot ekstensor dipengaruhi lebih dari fleksor. Duration varies from a few
hours to almost 8 days but seldom exceeds 72 hours. Jangka waktu bervariasi dari
beberapa jam sampai hampir 8 hari tapi jarang melebihi 72 jam. The attacks are
intermittent and infrequent in the beginning but may increase in frequency until
attacks occur almost daily. Serangan yang intermiten dan jarang pada awalnya
tetapi mungkin peningkatan frekuensi sampai serangan terjadi hampir setiap hari.
The frequency starts diminishing by age 30 years; it rarely occurs after age 50
years. Frekuensi mulai berkurang pada usia 30 tahun, itu jarang terjadi setelah
usia 50 tahun.
Urinary output is decreased during the attack because water accumulates
intracellularly in muscles. keluaran urin menurun selama serangan karena air
terakumulasi intrasel pada otot. In HypoPP1 patients, the age of onset is earlier
(10 y), the symptoms lasts longer (20 h), and the fixed proximal weakness is more
frequent (about 70%), compared with HypoPP2 patients (16 y, 1 h, none). Pada
pasien HypoPP1, usia onset yang lebih awal (10 y), gejala-gejala berlangsung
lama (20 jam), dan kelemahan proksimal tetap lebih sering (sekitar 70%),
dibandingkan dengan pasien HypoPP2 (16 y, 1 jam, tidak ada ).
Permanent muscle weakness may be seen later in the course of the disease and
may become severe. Tetap kelemahan otot dapat dilihat kemudian dalam
perjalanan penyakit dan bisa menjadi berat. Hypertrophy of the calves has been
observed. Hipertrofi dari betis telah diamati. Proximal muscle wasting, rather than
hypertrophy, may be seen in patients with permanent weakness. Wasting
proksimal otot, daripada hipertrofi, dapat dilihat pada pasien dengan kelemahan
permanen.
o HypoPP2 differs from HypoPP1 by (1) late onset, (2) tubular aggregates in
muscle biopsy (vacuolar myopathy in HypoPP1), (3) aggravation by
acetazolamide in HypoPP2. HypoPP2 berbeda dari HypoPP1 oleh (1) terlambat
onset, (2) agregat tubular di biopsi otot (miopati vacuolar di HypoPP1), (3)
kejengkelan oleh acetazolamide di HypoPP2.
o In this autosomal dominant inherited disorder, myotonia worsens with activity
(paradoxical myotonia) or cold temperatures. Dalam gangguan ini diwariskan
autosomal dominan, myotonia memburuk dengan aktivitas (myotonia paradoks)
atau suhu dingin.
o Symptoms are most pronounced in the face, tongue, and hand muscles with lesser
involvement of lower limb. Gejala yang paling diucapkan dalam lidah, wajah, dan
otot tangan dengan keterlibatan yang lebih rendah dari tungkai bawah.
o Muscle hypertrophy may be seen in 30% of patients. Hipertrofi otot dapat dilihat
pada 30% pasien.
o Myotonia lasts for seconds to minutes, but weakness may persist for hours and
sometimes days. Myotonia berlangsung selama detik untuk menit, namun
kelemahan dapat bertahan selama berjam-jam dan kadang-kadang hari. Frequency
of paralytic attacks declines with age. Frekuensi menurun serangan lumpuh
dengan usia.
o Permanent and severe myopathy is more frequent in patients with periodic
paralysis. Permanen dan parah miopati lebih sering pada pasien dengan
kelumpuhan periodik.
o Episodic weakness also may develop after exercise or cold temperatures and
usually lasts only a few minutes, but may last as long as days. kelemahan
Episodic juga dapat berkembang setelah suhu latihan atau dingin dan biasanya
berlangsung hanya beberapa menit, namun dapat berlangsung selama hari.
o Potassium loading usually worsens the symptoms, but in some cases, lowering the
serum potassium level precipitates the attacks. loading Kalium biasanya
memperburuk gejala, tetapi dalam beberapa kasus, menurunkan tingkat serum
kalium presipitat serangan.
Thyrotoxic periodic paralyses Thyrotoxic periodik melumpuhkan
o Thyrotoxicosis periodic paralyses (TPP) are the most common secondary
hypokalemic PP. melumpuhkan Thyrotoxicosis periodik (TPP) adalah PP yang
paling umum hipokalemik sekunder. TPP is most common in adults aged 20-40
years. TPP yang paling umum pada orang dewasa berusia 20-40 tahun.
Hyperinsulinemia, a carbohydrate load, and exercise are important in precipitating
paralytic attacks. Hyperinsulinemia, beban karbohidrat, dan latihan yang penting
dalam mempercepat serangan paralitik. Weakness is proximal and, if severe, may
involve respiratory or bulbar muscles. Kelemahan proksimal dan, jika parah,
mungkin melibatkan otot pernafasan atau yg berhubungan dgn bengkak. Attacks
last hours to days. Serangan terakhir jam untuk hari.
o The prevalence of TPP in patients with thyrotoxicosis is estimated to be 0.1-0.2%
in Caucasians and 13-14% in Chinese. Prevalensi TPP pada pasien dengan
tirotoksikosis diperkirakan 0,1-0,2% di Kaukasia dan 13-14% di Cina. Ninety-five

percent of TPP cases are sporadic. Sembilan puluh lima persen kasus TPP yang
sporadis. As TPP is more common in Asians, a genetic predisposition is strongly
suspected. Seperti TPP lebih umum di Asia, kecenderungan genetik diduga kuat.
Familial clustering of TPP indicates unmasking of an inherited disease (which is
sporadic) by thyrotoxicosis. clustering Familial dari TPP menunjukkan
unmasking dari penyakit warisan (yang sporadis) dengan tirotoksikosis. A
mutation in KCNE3 potassium channel gene was identified in one series. 6 Sebuah
mutasi dalam gen saluran kalium KCNE3 diidentifikasi dalam satu seri. 6
o Andersen-Tawil syndrome is characterized by variable expression of the triad of
dysmorphic features, periodic paralysis, and cardiac arrhythmias. Andersen-Tawil
syndrome ditandai oleh variabel ekspresi tiga serangkai fitur dismorfik, paralisis
periodik, dan aritmia jantung. Patients may have short stature, hypertelorism, lowset ears, micrognathia, fifth finger clinodactyly, and scoliosis. Pasien mungkin
memiliki perawakan pendek, hypertelorism, telinga rendah-set, micrognathia, jari
kelima clinodactyly, dan scoliosis. Episodic weakness lasting a few hours to
several days may arise spontaneously but usually follows physical activity.
kelemahan Episodic berlangsung beberapa jam sampai beberapa hari mungkin
timbul secara spontan tetapi biasanya mengikuti aktivitas fisik. The periodic
paralysis is not associated with myotonia. Kelumpuhan periodik tidak terkait
dengan myotonia.
o Prolonged QT interval and ventricular arrhythmias are the most common cardiac
manifestations. Berkepanjangan QT interval dan ventrikel aritmia adalah
manifestasi jantung yang paling umum. Other ECG abnormalities include PVCs,
ventricular bigeminy, supraventricular and ventricular tachycardias, prominent U
waves, and torsades de pointes. kelainan EKG lainnya termasuk PVC, bigeminy
ventrikel, tachycardias supraventrikuler dan ventrikel, menonjol U gelombang,
dan de torsades pointes. Bidirectional ventricular tachycardia, which is
characterized by beat-to-beat alternating QRS axis polarity, is unique to a subset
of patients. takikardia ventrikel dua arah, yang ditandai dengan memukul-to-beat
bolak sumbu QRS polaritas, adalah unik untuk subset dari pasien. Patients may be
completely asymptomatic. Pasien mungkin sama sekali tanpa gejala. Patients may
experience palpitations, syncopal episodes, and cardiac arrest. Pasien mungkin
mengalami palpitasi, episode syncopal, dan serangan jantung. Sudden cardiac
death is less frequent in ATS when compared with the other long QT syndromes.
kematian mendadak jantung kurang sering di ATS bila dibandingkan dengan
sindrom QT panjang lainnya.
o Andersen-Tawil syndrome should always be considered in any patient with
periodic paralysis as facial dysmorphism may be subtle and cardiac symptoms are
not always present in spite of an abnormal ECG. Andersen-Tawil syndrome harus
selalu dipertimbangkan dalam setiap pasien dengan kelumpuhan periodik sebagai
dysmorphism wajah mungkin gejala halus dan jantung tidak selalu hadir
meskipun EKG abnormal.
Physical Fisik
Most of the patients with a periodic paralysis (PP) have similar clinical features, which are as
follows: Sebagian besar pasien dengan kelumpuhan periodik (PP) memiliki fitur klinis yang
serupa, yang adalah sebagai berikut:
Interictal lid lag and eyelid myotonia - May be the only clinical signs in hyperkalemic PP
Interictal tutup lag dan myotonia kelopak mata - Mei menjadi satu-satunya tanda-tanda
klinis pada PP hyperkalemic
Normal sensation Normal sensasi
Fixed proximal weakness - May develop in patients with either hyperkalemic or
hypokalemic PP kelemahan proksimal Tetap - Mei mengembangkan pada pasien dengan
baik hyperkalemic atau hipokalemik PP
Diminished stretch reflexes during attacks Berkurang refleks peregangan selama
serangan
Table 2. Tabel 2. Distinguishing Features Among the Common Forms of Periodic Paralyses Fitur
Membedakan antara Bentuk umum dari Paralyses Berkala
Table Tabel
Syndrome
Sindroma
Age of
Duration of
Precipitating
Severity of
Associated
Onset Age Attack Durasi Pengendapan
Attacks
Asosiasi
of Onset
Attack
Factors Faktor- Keparahan Features Fitur
faktor
Serangan
Hyper-kalemic First
Few minutes to Low
Rarely severe Perioral and limb
periodic
decade of less than 2 h
carbohydrate
Jarang parah paresthesias
paralyses
life
(mostly less
intake (fasting)
Perioral dan
Hyper-kalemic Pertama
than 1 h)
Rendah asupan
parestesia anggota
periodik
dekade
Beberapa
karbohidrat
tubuh
melumpuhkan kehidupan menit sampai (puasa)
kurang dari 2
Myotonia frequent
jam
Cold Dingin
Myotonia sering
(kebanyakan
kurang dari 1 Rest following
Occasional
jam)
exercise Istirahat
pseudoLatihan berikut
hypertrophy of
muscles Sesekali
pseudo-hipertrofi
Alcohol Alkohol
otot
Infection Infeksi
Emotional stress
Stres emosional
Trauma Trauma
Hypo-kalemic
periodic
paralyses
Hypo-kalemic
periodik
melumpuhkan
Variable Childhood
to third
decade
VariabelAnak untuk
dekade
ketiga
Majority of
cases
before 16
years
Mayoritas
kasus
sebelum 16
tahun
Menstrual period
Periode
menstruasi
Few hours to Early morning
almost a week attacks after
Beberapa jam previous day
untuk hampir physical activity
seminggu
Dini hari
serangan setelah
Typically no melakukan
longer than 72 aktivitas fisik
hari sebelumnya
h Biasanya
tidak lebih dari
72 jam
Highcarbohydrate
meal, Chinese
food, alcohol
Tinggikarbohidrat
makan, makanan
Cina, alkohol
Cold, change in
barometric
pressure or
humidity Dingin,
perubahan
tekanan udara
atau kelembaban
Fever, upper
respiratory tract
infections
Demam, infeksi
saluran
pernapasan atas
Lack of sleep,
Kurang tidur,
fatigue kelelahan
Menstrual cycle
Severe Parah Occasional

myotonic lid lag
Sesekali lag
Complete
myotonic tutup
paralysis
Lengkap
kelumpuhan Myotonia between
attacks rare
Myotonia antara
serangan langka
Unilateral, partial,
monomelic
Sepihak, parsial,
monomelic
Fixed muscle
weakness late in
disease kelemahan
otot tetap
terlambat dalam
penyakit
Potassiumassociated
myotonia
Kalium terkait
myotonia
First
decade
Pertama
dekade
No weakness
Tidak ada
kelemahan
Para-myotonia
congenita Paramyotonia
congenita
First
decade
Pertama
dekade
2-24 h 2-24 h
Siklus
menstruasi
Cold Dingin
Attacks of
stiffness can
be mild to
Rest after
exercise Istirahat severe
setelah latihan Serangan
kekakuan
dapat ringan
sampai berat
Cold Dingin
Rarely severe
Jarang parah
Muscle
hypertrophy Otot
hipertrofi
Pseudohypertrophy of
muscles Pseudohipertrofi otot
Paradoxical
myotonia
Paradoks
myotonia
Thyrotoxic
periodic
paralyses
Thyrotoxic
periodik
melumpuhkan
Third and Few hours to 7

fourth
d Beberapa
decades
jam untuk 7 d
Ketiga dan
dekade
keempat
Same as
hypokalemic PP
Sama seperti PP
hipokalemik
Hyperinsulinemia
Hyperinsulinemia
Same as
hypokalemic
PP Sama
seperti PP
hipokalemik
Fixed weakness
rare Tetap
kelemahan langka
Fixed muscle
weakness may
develop
kelemahan otot
tetap dapat
mengembangkan
Hypokalemia
during attacks
Hipokalemia saat
serangan
Syndrome
Age of
Duration of
Precipitating
Severity of
Associated
Sindroma
Onset Age Attack Durasi Pengendapan
Attacks
Asosiasi
of Onset
Attack
Factors Faktor- Keparahan Features Fitur
faktor
Serangan
Hyper-kalemic First
Few minutes to Low
Rarely severe Perioral and limb
periodic
decade of less than 2 h
carbohydrate
Jarang parah paresthesias
paralyses
life
(mostly less
intake (fasting)
Perioral dan
Hyper-kalemic Pertama
than 1 h)
Rendah asupan
parestesia anggota
periodik
dekade
Beberapa
karbohidrat
tubuh
melumpuhkan kehidupan menit sampai (puasa)
kurang dari 2
Myotonia frequent
jam
(kebanyakan
kurang dari 1
jam)
Cold Dingin
Myotonia sering
Rest following
exercise Istirahat
Latihan berikut
Occasional
pseudohypertrophy of
muscles Sesekali
pseudo-hipertrofi
otot
Alcohol Alkohol
Infection Infeksi
Emotional stress
Stres emosional
Trauma Trauma
Hypo-kalemic
periodic
paralyses
Hypo-kalemic
periodik
melumpuhkan
Variable Childhood
to third
decade
VariabelAnak untuk
dekade
ketiga
Majority of
cases
before 16
years
Mayoritas
kasus
sebelum 16
tahun
Menstrual period
Periode
menstruasi
Few hours to Early morning
almost a week attacks after
Beberapa jam previous day
untuk hampir physical activity
seminggu
Dini hari
serangan setelah
Typically no melakukan
longer than 72 aktivitas fisik
hari sebelumnya
h Biasanya
tidak lebih dari
72 jam
Highcarbohydrate
meal, Chinese
food, alcohol
Tinggikarbohidrat
makan, makanan
Cina, alkohol
Cold, change in
barometric
pressure or
humidity Dingin,
perubahan
tekanan udara
atau kelembaban
Fever, upper
Severe Parah Occasional

myotonic lid lag
Sesekali lag
Complete
myotonic tutup
paralysis
Lengkap
kelumpuhan Myotonia between
attacks rare
Myotonia antara
serangan langka
Unilateral, partial,
monomelic
Sepihak, parsial,
monomelic
Fixed muscle
weakness late in
disease kelemahan
otot tetap
terlambat dalam
penyakit
respiratory tract
infections
Demam, infeksi
saluran
pernapasan atas
Lack of sleep,
Kurang tidur,
fatigue kelelahan
Potassiumassociated
myotonia
Kalium terkait
myotonia
First
decade
Pertama
dekade
No weakness
Tidak ada
kelemahan
Para-myotonia
congenita Paramyotonia
congenita
First
decade
Pertama
dekade
2-24 h 2-24 h
Menstrual cycle
Siklus
menstruasi
Cold Dingin
Attacks of
stiffness can
be mild to
Rest after
exercise Istirahat severe
setelah latihan Serangan
kekakuan
dapat ringan
sampai berat
Cold Dingin
Rarely severe
Jarang parah
Muscle
hypertrophy Otot
hipertrofi
Pseudohypertrophy of
muscles Pseudohipertrofi otot
Paradoxical
myotonia
Paradoks
myotonia
Thyrotoxic
periodic
paralyses
Thyrotoxic
periodik
melumpuhkan
Third and Few hours to 7

fourth
d Beberapa
decades
jam untuk 7 d
Ketiga dan
dekade
keempat
Same as
hypokalemic PP
Sama seperti PP
hipokalemik
Hyperinsulinemia
Hyperinsulinemia
Same as
hypokalemic
PP Sama
seperti PP
hipokalemik
Fixed weakness
rare Tetap
kelemahan langka
Fixed muscle
weakness may
develop
kelemahan otot
tetap dapat
mengembangkan
Hypokalemia
during attacks
Hipokalemia saat
serangan
Causes Penyebab
Refer to Pathophysiology and Table 2 and Table 3 . Lihat Patofisiologi dan Tabel 2 dan Tabel 3 .
Diferensial Diagnosa
Acute Inflammatory Demyelinating
Spinal Cord Hemorrhage Spinal Cord
Polyradiculoneuropathy Polyradiculoneuropathy
Perdarahan
inflamasi akut demielinasi
Cauda Equina and Conus Medullaris Syndromes
Spinal Cord Infarction Spinal Cord
Cauda equina dan Conus medullaris Syndromes
Infarction
Chronic Inflammatory Demyelinating
Spinal Cord, Topographical and
Polyradiculoneuropathy Polyradiculoneuropathy
Functional Anatomy Spinal Cord, dan
kronis inflamasi demielinasi
Fungsional Anatomi Topografi
Guillain-Barre Syndrome in Childhood GuillainSpinal Epidural Abscess Spinal Epidural
Barre Syndrome in Childhood
Abses
Lambert-Eaton Myasthenic Syndrome Lambert-Eaton
Sindrom miasthenik
Multiple Sclerosis Multiple Sclerosis
Myasthenia Gravis Gravis gravis
Other Problems to Be Considered Masalah lain untuk Be Dianggap

Table 3. Tabel 3. Differential Diagnosis of Secondary Periodic Paralyses Diferensial Diagnosis
Paralyses Berkala Sekunder
Table Tabel
Hypokalemic Hipokalemik
Urinary potassium-wasting syndromes Kencing
kalium-buang sindrom
Hyperkalemic Hyperkalemic
Hyperaldosteronism Hyperaldosteronism
Conn syndrome Conn sindrom
Bartter syndrome Bartter sindrom
Licorice intoxication Licorice keracunan
Alcohol Alkohol
Addison disease Penyakit Addison

Chronic renal failure Gagal ginjal kronis
Drugs - Amphotericin B, barium Obat - Amfoterisin

B, barium
Renal tubular acidosis Renal tubular asidosis
GI potassium-wasting syndromes GI kalium-buang
sindrom
Laxative abuse Penyalahgunaan pencahar

Severe diarrhea Diare berat
Hypokalemic Hipokalemik
Urinary potassium-wasting syndromes Kencing
kalium-buang sindrom
Hyperkalemic Hyperkalemic
Hyperaldosteronism Hyperaldosteronism
Conn syndrome Conn sindrom
Bartter syndrome Bartter sindrom
Licorice intoxication Licorice keracunan
Alcohol Alkohol
Drugs - Amphotericin B, barium Obat - Amfoterisin

B, barium
Renal tubular acidosis Renal tubular asidosis
GI potassium-wasting syndromes GI kalium-buang
sindrom
Hyporeninemic Hyporeninemic
Hypoaldosteronism Hypoaldosteronism
Ileostomy with tight stoma Ileostomy
dengan stoma ketat
Potassium load Kalium beban
Potassium-sparing diuretics Potassiumsparing diuretic
Addison disease Penyakit Addison

Chronic renal failure Gagal ginjal kronis
Hyporeninemic Hyporeninemic
Hypoaldosteronism Hypoaldosteronism
Ileostomy with tight stoma Ileostomy
dengan stoma ketat
Potassium load Kalium beban
Potassium-sparing diuretics Potassiumsparing diuretic
Laxative abuse Penyalahgunaan pencahar

Severe diarrhea Diare berat
Table 4. Tabel 4. Differential Diagnosis of Other Entities Causing Acute Generalized Weakness
Diferensial Diagnosis Entitas Lain Menyebabkan Kelemahan Generalized Akut
Table Tabel
Disorder Kekacauan
Pattern and Pola dan
Transient ischemic attacks Serangan iskemik

transien
Sleep attacks Tidur serangan
Myelopathy Myelopathy
Traumatic Trauma
Transverse myelitis Melintang myelitis
Ischemic Iskemik
Myasthenia gravis Myasthenia gravis

Lambert-Eaton myasthenic syndrome Sindrom
Lambert-Eaton miasthenik
Peripheral neuropathy of acute onset Neuropati

perifer onset akut
Subacute in onset Subakut di awal

Associated autonomic symptoms in LEMS
Asosiasi gejala otonom memiliki kualifikasi
Hyporeflexia in LEMS Hyporeflexia di
ditempat anda
Abnormal repetitive nerve stimulation
Abnormal stimulasi saraf berulang
Presence of distinct antibodies Kehadiran
antibodi yang berbeda
Pattern of weakness Pola kelemahan
Absent stretch reflexes Tidak ada stretch
refleks
Acute inflammatory Inflamasi akut

demyelinating poly-radiculoneuropathy
demielinasi poli-radiculoneuropathy
Porphyria Porfiria
Toxins Racun
Distribution of Distribusi
Weakness Kelemahan
Follow CNS distribution (ie, hemiparetic) Ikuti
distribusi SSP (yaitu, hemiparetic)
May have sensory symptoms and signs
Mungkin memiliki gejala sensorik dan tandatanda
Occur at onset or termination of sleep Terjadi
pada awal atau pemutusan tidur
Last only minutes Terakhir hanya beberapa
menit
Sensory symptoms Sensory gejala
Presence of a sensory level Hadirnya tingkat
sensorik
Sphincter involvement Sphincter keterlibatan
Clinical presentation Presentasi klinis
Ciguatera Ciguatera
Tetrodotoxin Tetrodotoxin
Disorder Kekacauan
Transient ischemic attacks Serangan iskemik

transien
Pattern and Pola dan

Distribution of Distribusi
Weakness Kelemahan
Follow CNS distribution (ie, hemiparetic) Ikuti
distribusi SSP (yaitu, hemiparetic)
Sleep attacks Tidur serangan
Myelopathy Myelopathy
Traumatic Trauma
Transverse myelitis Melintang myelitis
Ischemic Iskemik
Myasthenia gravis Myasthenia gravis

Lambert-Eaton myasthenic syndrome Sindrom
Lambert-Eaton miasthenik
Peripheral neuropathy of acute onset Neuropati

perifer onset akut
Subacute in onset Subakut di awal

Associated autonomic symptoms in LEMS
Asosiasi gejala otonom memiliki kualifikasi
Hyporeflexia in LEMS Hyporeflexia di
ditempat anda
Abnormal repetitive nerve stimulation
Abnormal stimulasi saraf berulang
Presence of distinct antibodies Kehadiran
antibodi yang berbeda
Pattern of weakness Pola kelemahan
Absent stretch reflexes Tidak ada stretch
refleks
Acute inflammatory Inflamasi akut

demyelinating poly-radiculoneuropathy
demielinasi poli-radiculoneuropathy
Porphyria Porfiria
Toxins Racun
May have sensory symptoms and signs

Mungkin memiliki gejala sensorik dan tandatanda
Occur at onset or termination of sleep Terjadi
pada awal atau pemutusan tidur
Last only minutes Terakhir hanya beberapa
menit
Sensory symptoms Sensory gejala
Presence of a sensory level Hadirnya tingkat
sensorik
Sphincter involvement Sphincter keterlibatan
Clinical presentation Presentasi klinis
Ciguatera Ciguatera
Tetrodotoxin Tetrodotoxin
Workup Hasil pemeriksaan

Laboratory Studies Laboratorium Studi
Hypokalemic periodic paralyses Hipokalemik periodik melumpuhkan
Serum potassium level decreases during attacks but not necessarily below normal. Tingkat
kalium serum menurun selama serangan tetapi belum tentu di bawah normal. Creatine
phosphokinase (CPK) level rises during attacks. Creatine phosphokinase (CPK) tingkat
meningkat selama serangan. In a recent study, transtubular potassium concentration gradient
(TTKG) and potassium-creatinine ratio (K/C) distinguished primary hypokalemic PP from
secondary PP resulting from a large deficit of potassium. Dalam penelitian terbaru, kalium
gradien konsentrasi transtubular (TTKG) dan rasio kalium-kreatinin (K / C) dibedakan PP
hipokalemik primer dari PP sekunder yang dihasilkan dari defisit besar kalium. Values of more
than 3.0 mmol/mmol (TTKG) and 2.5 mmol/mmol (PCR) indicated secondary hypokalemic PP.
Nilai lebih dari 3,0 mmol / mmol (TTKG) dan 2,5 mmol / mmol (PCR) menunjukkan PP
hipokalemik sekunder.
A random urine potassium-creatinine ratio (K/C) of less than 1.5 is indicative of poor intake,
gastrointestinal loss, and potassium shift into the cells. Sebuah rasio urin acak-kreatinin kalium
(K / C) kurang dari 1,5 adalah indikasi dari asupan miskin, kehilangan gastrointestinal, dan
pergeseran kalium ke dalam sel. If hypokalemia is associated with paralysis, one should consider
hyperthyroidism or familial or sporadic periodic paralysis. Jika hipokalemia dikaitkan dengan
kelumpuhan, kita harus mempertimbangkan hipertiroidisme atau kelumpuhan periodik keluarga
atau sporadis.
Some of the medical conditions associated with hypokalemia are included in the table below
(modified from Assadi 2008 7 ). Beberapa kondisi medis yang terkait dengan hipokalemia
termasuk dalam tabel di bawah ini (dimodifikasi dari Assadi 2008 7 ).
Table 5. Tabel 5. Medical Conditions Associated With Hypokalemia Kondisi medis Asosiasi
Dengan hipokalemia
Table Tabel
Urine
Acid Base
K/C Status Asam
Ratio Base Status
Urine K /
Rasio C
<1.5 <1,5 Metabolic
acidosis
Asidosis
metabolik
<1.5 <1,5 Metabolic
alkalosis
Metabolic
alkalosis
Other Associated
Features Fitur
lainnya Asosiasi
Medical Medis
Conditions Kondisi
Lower GI loss Laxative abuse, diarrhea Lower GI

rugi - penyalahgunaan Laksatif, diare
Normal BP
Normal BP
Surreptitious vomiting Diam-diam muntah
>1.5 >
1,5
>1.5 >
1,5
1.5
1,5
Metabolic
acidosis
Asidosis
metabolik
Metabolic
alkalosis
Metabolic
alkalosis
Metabolic
alkalosis
Metabolic
alkalosis
DKA, type 1 or type 2 distal RTA DKA, tipe 1 atau

tipe 2 RTA distal
Normal BP
Normal BP
Diuretic use, Bartter syndrome, Gitelman syndrome

Diuretik digunakan, Bartter sindrom, sindrom
Gitelman
Primary aldosteronism, Cushing syndrome, renal

artery stenosis, congenital adrenal hyperplasia,
apparent mineralocorticoid excess, Liddle syndrome
Primer aldosteronisme, sindrom Cushing, stenosis
arteri ginjal, hiperplasia adrenal bawaan, kelebihan
mineralokortikoid jelas, Liddle sindrom
Acid Base Other Associated
Medical Medis
Status Asam Features Fitur
Conditions Kondisi
Base Status lainnya Asosiasi
Urine
K/C
Ratio
Urine K /
Rasio C
<1.5 <1,5 Metabolic
acidosis
Asidosis
metabolik
<1.5 <1,5 Metabolic
alkalosis
Metabolic
alkalosis
>1.5 >
Metabolic
1,5
acidosis
Asidosis
metabolik
>1.5 >
Metabolic
1,5
alkalosis
Metabolic
alkalosis
1.5
Metabolic
1,5
alkalosis
Metabolic
alkalosis
Hypertension
Hipertensi
Lower GI loss Laxative abuse, diarrhea Lower GI

rugi - penyalahgunaan Laksatif, diare
Normal BP
Normal BP
Surreptitious vomiting Diam-diam muntah
DKA, type 1 or type 2 distal RTA DKA, tipe 1 atau

tipe 2 RTA distal
Normal BP
Normal BP
Diuretic use, Bartter syndrome, Gitelman syndrome

Diuretik digunakan, Bartter sindrom, sindrom
Gitelman
Hypertension
Hipertensi
Primary aldosteronism, Cushing syndrome, renal

artery stenosis, congenital adrenal hyperplasia,
apparent mineralocorticoid excess, Liddle syndrome
Primer aldosteronisme, sindrom Cushing, stenosis
arteri ginjal, hiperplasia adrenal bawaan, kelebihan
mineralokortikoid jelas, Liddle sindrom
ECG may show sinus bradycardia and evidence of hypokalemia (flattening of T waves, U waves
in leads II, V 2 , V 3 , and V 4 , and ST-segment depression). EKG dapat menunjukkan

bradikardia sinus dan bukti hipokalemia (mendatarkan gelombang T, gelombang U dalam lead
II, V 2, V 3, dan V 4, dan segmen ST depresi).
Hyperkalemic periodic paralyses Hyperkalemic periodik melumpuhkan
Serum potassium level may increase to as high as 5-6 mEq/L. Tingkat kalium serum bisa
meningkat sampai setinggi 5-6 mEq / L. Sometimes, it may be at the upper limit of normal, and
it seldom reaches cardiotoxic levels. Kadang-kadang, mungkin berada di batas atas normal, dan
jarang mencapai tingkat kardiotoksik. Serum sodium level may fall as potassium level rises.
kadar natrium serum bisa jatuh dan naik tingkat kalium. This results from sodium entry into the
muscle. Ini hasil dari entri natrium ke otot. Water also moves in this direction, causing
hemoconcentration and further hyperkalemia. Air juga bergerak ke arah ini, menyebabkan
hemokonsentrasi dan hiperkalemia lebih lanjut. Hyperregulation may occur at the end of an
attack, causing hypokalemia. Hyperregulation dapat terjadi pada akhir serangan, menyebabkan
hipokalemia. Water diuresis, creatinuria, and an increase in CPK level also may occur at the end
of an attack. diuresis Air, creatinuria, dan peningkatan tingkat CPK dapat juga terjadi pada akhir
serangan.
ECG may show tall T waves. EKG dapat menunjukkan tinggi gelombang T.
Table 6. Tabel 6. Diagnostic Studies of Hypokalemic and Hyperkalemic Periodic Paralyses Studi
Diagnostik Paralyses Berkala hipokalemik dan Hyperkalemic
Table Tabel
Hypokalemic PP Hipokalemik
Hyperkalemic PP Hyperkalemic PP
PP
Serum
Mildly depressed; may reach 1-5 Increases from baseline but may not increase
potassium
mEq/L Sedikit depresi; dapat
beyond normal range Meningkat dari baseline
Serum kalium mencapai 1-5 mEq / L
namun mungkin tidak meningkat melebihi
batas normal
Serum CPK
Moderately elevated during
Mildly elevated during attacks Sedikit
Serum CPK
attacks Cukup meningkat selama meningkat selama serangan
serangan
ECG EKG
Bradycardia Bradikardi
Tall T waves Tinggi Gelombang T
Flat T waves, U waves, STsegment depression T Flat
ombak, gelombang U, STsegmen depresi
Hypokalemic PP Hipokalemik
Hyperkalemic PP Hyperkalemic PP
PP
Serum
Mildly depressed; may reach 1-5 Increases from baseline but may not increase
potassium
mEq/L Sedikit depresi; dapat
beyond normal range Meningkat dari baseline
Serum kalium mencapai 1-5 mEq / L
namun mungkin tidak meningkat melebihi
batas normal
Serum CPK
Moderately elevated during
Mildly elevated during attacks Sedikit
Serum CPK
attacks Cukup meningkat selama meningkat selama serangan
serangan
ECG EKG
Bradycardia Bradikardi
Tall T waves Tinggi Gelombang T
Flat T waves, U waves, STsegment depression T Flat
ombak, gelombang U, STsegmen depresi
Other Tests Tes Lainnya

Electrodiagnosis and provocative testing can be performed for periodic paralysis.
Electrodiagnosis dan pengujian provokatif dapat dilakukan karena kelumpuhan periodik.
Electrodiagnosis Electrodiagnosis
Nerve conduction studies Studi konduksi saraf
The compound muscle action potential (CMAP) amplitude declines during the paralytic
attack, more so in hypokalemic periodic paralysis. Tindakan senyawa otot potensial
(CMAP) amplitudo menurun selama serangan lumpuh, lagi di paralisis periodik
hipokalemik. Sensory nerve conduction study findings are normal in most patients with
periodic paralyses. Sensory temuan studi konduksi saraf normal pada kebanyakan pasien
dengan melumpuhkan berkala. Nerve conduction findings may be abnormal when the
patient has peripheral neuropathy associated with thyrotoxicosis. Temuan konduksi saraf
mungkin abnormal bila pasien memiliki neuropati perifer berhubungan dengan
tirotoksikosis.
Repetitive nerve stimulation in hyperkalemic periodic paralysis may show a decrement in
CMAP (accentuated by cooling) that is steadily progressive without tendency to recover
as in myasthenia gravis. stimulasi saraf berulang kelumpuhan periodik hyperkalemic
mungkin menunjukkan penurunan dalam CMAP (ditekankan oleh pendingin) yang terus
progresif tanpa kecenderungan untuk pulih seperti pada myasthenia gravis. The amount
of decrement is variable and increases with increased frequency of stimulation. Jumlah
pengurangan tersebut adalah variabel dan meningkat seiring dengan peningkatan
frekuensi stimulasi. In some patients, it is seen only with stimulation greater than 25 Hz. 8
Pada beberapa pasien, terlihat hanya dengan rangsangan yang lebih besar dari 25 Hz. 8
Muscle cooling Otot pendinginan
Cooling of muscle to 20C leads to force reduction and prolonged twitch-relaxation in PC

and hyperkalemic periodic paralyses. Pendinginan otot sampai 20 C mengarah untuk
memaksa pengurangan dan berkepanjangan berkedut-relaksasi di PC dan melumpuhkan
hyperkalemic berkala. Muscle paralysis is prolonged and persistent even after rewarming.
kelumpuhan otot yang berkepanjangan dan terus-menerus bahkan setelah rewarming.
As the muscle depolarizes at different temperatures in different patients, a muscle
temperature of 20-25C is preferable. Sebagai otot depolarizes pada temperatur yang
berbeda pada pasien yang berbeda, suhu otot 20-25 C adalah lebih baik. This is best
achieved by immersing the whole arm in ice water. Hal ini paling baik dicapai dengan
merendam seluruh lengan dalam air es. This alone causes weakness in many patients. Ini
saja menyebabkan kelemahan pada banyak pasien.
Short periods of exercise (2-3 1-second short exercises) enhance the weakness and result
in a very small CMAP. 8 periode singkat dari latihan (2-3 kedua pendek latihan-1)
meningkatkan kelemahan dan menghasilkan kecil CMAP sangat. 8
Exercise test in periodic paralyses Latihan tes dalam melumpuhkan periodik
This is one of the most informative diagnostic tests for periodic paralyses. Ini adalah
salah satu tes diagnostik yang paling informatif untuk melumpuhkan berkala. The test is
based on 2 previously described observations: that CMAP amplitude is low in the muscle
weakened by periodic paralyses and the weakness can be induced by exercise. Pengujian
ini didasarkan pada pengamatan 2 telah dijelaskan sebelumnya: CMAP amplitudo yang
rendah pada otot melemah oleh melumpuhkan berkala dan kelemahan dapat ditimbulkan
dengan olahraga. Recording electrodes are placed over the hypothenar muscle and a
CMAP is obtained by giving supramaximal stimuli. Merekam elektroda ditempatkan di
atas otot hipotenar dan CMAP diperoleh dengan memberikan rangsangan supramaksimal.
The stimuli are repeated every 30-60 seconds for a period of 2-3 minutes, until a stable
baseline amplitude is obtained. Stimuli yang diulang setiap 30-60 detik untuk jangka
waktu 2-3 menit, sampai amplitudo dasar yang stabil diperoleh. Two kinds of exercise
tests can be performed. Dua jenis tes latihan dapat dilakukan.
A short exercise test is one in which the muscle is contracted strongly in isometric
conditions for 10-12 seconds. Sebuah test olahraga pendek adalah satu di mana otot
dikontrak kuat dalam kondisi isometrik selama 10-12 detik. CMAPs are obtained 2
seconds immediately after exercise an then every 10 seconds for 50 seconds. CMAPs
diperoleh 2 detik segera setelah latihan maka setiap 10 detik selama 50 detik. In
hyperkalemic periodic paralyses patients carrying T704M mutations, increase in CMAP
amplitude (approximately 23%) occurs. Dalam hyperkalemic pasien melumpuhkan
berkala tercatat T704M mutasi, peningkatan amplitudo CMAP (sekitar 23%) terjadi. In
HypoPP1 and HypoPP2 patients, the increase is not significantly different from the
control subjects (about 5%). Pada pasien HypoPP1 dan HypoPP2, kenaikan tersebut tidak
berbeda secara signifikan dari subyek kontrol (sekitar 5%).
In the long exercise test, the muscle is contracted for 5 minutes, with brief (3- to 4second) rests every 15 seconds to prevent muscle ischemia. Pada uji latihan lama, otot
dikontrak selama 5 menit, dengan singkat (3 - to 4-detik) istirahat setiap 15 detik untuk
mencegah iskemia otot. The CMAP is recorded every minute during exercise and every
1-2 minutes after exercise for a period of 30 minutes or until no further decrement is
observed in the amplitude of CMAP. The CMAP dicatat setiap menit selama latihan dan
setiap 1-2 menit setelah latihan selama 30 menit atau sampai tidak ada pengurangan lebih
lanjut diamati dalam amplitudo CMAP. Percentage of decrement is calculated by
subtracting the smallest amplitude after exercise from the greatest amplitude after
exercise and dividing it by the greatest amplitude after exercise. Persentase pengurangan
dihitung dengan mengurangkan amplitudo terkecil setelah latihan dari amplitudo terbesar
setelah latihan dan membaginya dengan amplitudo terbesar setelah latihan. After a brief
increase in CMAP amplitude, a decrease of more than 40% in the CMAP amplitude after
20 minutes is considered abnormal. Setelah peningkatan singkat di amplitudo CMAP,
turun lebih dari 40% pada amplitudo CMAP setelah 20 menit dianggap abnormal. An
abnormal result is highly suggestive of periodic paralyses (98% specificity) but does not
distinguish between hyperkalemic, hypokalemic, and thyrotoxic periodic paralyses. Hasil
abnormal sangat sugestif dari melumpuhkan periodik (spesifisitas 98%) tetapi tidak
membedakan antara melumpuhkan periodik hyperkalemic, hipokalemik, dan thyrotoxic.
Different electrophysiologic patterns are identified in different group of patients with
distinct mutations by using both these tests. elektropsikologi pola yang berbeda
diidentifikasi dalam kelompok yang berbeda dari pasien dengan mutasi berbeda dengan
menggunakan kedua tes ini.
Table 7. Tabel 7. Electrophysiological Patterns to Exercise Testing Pola elektrofisiologi untuk
Latihan Pengujian
Table Tabel
Electrophysiological
Elektrofisiologi
pattern pola
Channel mutations Channel
mutasi
Short Exercise Test: Pendek
Latihan Tes:
Post exercise myotonic
potentials Post latihan potensi
myotonic
CMAP amplitude CMAP
Para- ParaHyper- HyperHypo- Hypomyotonia myotonia kalemic kalemic

kalemic kalemic
Congenita Congenita Periodic Paralysis Periodic Paralysis
Kelumpuhan
Kelumpuhan
Berkala
Berkala
I Aku
IV IV
VV
Sodium T1313M,
R1448C Sodium
T1313M, R1448C
Sodium T704M
Sodium T704M
Calcium R528H
Kalsium R528H
Yes Ya
No Tidak ada
No Tidak ada
Increase or
Increase
No Tidak ada
amplitudo
Meningkatkan atau
Meningkatkan
change after First trial berubah decrease penurunan
setelah sidang Pertama
CMAP amplitude CMAP
Gradual Bertahap
Gradual Bertahap
amplitudo
increase meningkatkan
increase
change after second berubah
meningkatkan
setelah kedua
and third trial dan ketiga uji
coba
Long Exercise Test: Long
Latihan Tes:
Immediate change of Segera
Decrease Penurunan
Increase
perubahan
Meningkatkan
CMAP amplitude CMAP
amplitudo
Late change of CMAP
Decrease Penurunan Decrease Penurunan
amplitude Akhir perubahan
amplitudo CMAP
Modified from Fournier et al, 2004. 9 Modifikasi dari Fournier et al, 2004. 9
Para- ParaHyper- Hypermyotonia myotonia kalemic kalemic
Congenita Congenita Periodic Paralysis
Kelumpuhan
Berkala
Electrophysiological
I Aku
IV IV
Elektrofisiologi
pattern pola
Channel mutations Channel
Sodium T1313M,
Sodium T704M
mutasi
R1448C Sodium
Sodium T704M
T1313M, R1448C
Short Exercise Test: Pendek
Latihan Tes:
Post exercise myotonic
Yes Ya
No Tidak ada
potentials Post latihan potensi
myotonic
CMAP amplitude CMAP
Increase or
Increase
amplitudo
Meningkatkan atau
Meningkatkan
change after First trial berubah decrease penurunan
setelah sidang Pertama
CMAP amplitude CMAP
Gradual Bertahap
Gradual Bertahap
amplitudo
increase meningkatkan
increase
change after second berubah
meningkatkan
setelah kedua
and third trial dan ketiga uji
No Tidak ada
No Tidak ada
Decrease
Penurunan
Hypo- Hypokalemic kalemic

Periodic Paralysis
Kelumpuhan
Berkala
VV
Calcium R528H
Kalsium R528H
No Tidak ada
No Tidak ada
No Tidak ada
coba
Long Exercise Test: Long
Latihan Tes:
Immediate change of Segera
Decrease Penurunan
Increase
perubahan
Meningkatkan
CMAP amplitude CMAP
amplitudo
Late change of CMAP
Decrease Penurunan Decrease Penurunan
amplitude Akhir perubahan
amplitudo CMAP
Modified from Fournier et al, 2004. 9 Modifikasi dari Fournier et al, 2004. 9
No Tidak ada
Decrease
Penurunan
Needle electrode examination Elektroda jarum pemeriksaan
Insertional activity: The presence of myotonia usually excludes the diagnosis of

hypokalemic periodic paralyses. Kegiatan insersional: Kehadiran myotonia biasanya
tidak termasuk diagnosis melumpuhkan hipokalemik periodik. In hyperkalemic periodic
paralyses, no abnormality is detectable between attacks. Dalam melumpuhkan periodik
hyperkalemic, tidak ada kelainan terdeteksi antara serangan. In those patients with both
clinical and electrical myotonia, mild to moderate spontaneous activity is seen, consisting
of fibrillation potentials, positive sharp waves, and myotonic discharges. Pada pasien
dengan baik myotonia klinis dan listrik, ringan sampai kegiatan spontan moderat dilihat,
terdiri dari potensi fibrilasi, gelombang positif tajam, dan debit myotonic.
Myotonia: Electrical myotonia consists of repetitive discharges at rates of 20-80 Hz.
Myotonia: myotonia Listrik terdiri dari discharge berulang dengan tarif 20-80 Hz. The
shape of the potentials can be either positive sharp waves or small biphasic waves; the
former is seen while moving the needle electrode and the latter following muscle
contraction. Bentuk potensi dapat berupa gelombang tajam positif atau gelombang
biphasic kecil, yang pertama terlihat saat bergerak elektroda jarum dan kontraksi otot
terakhir berikut. Another criterion distinct for myotonia is waxing and waning of the
amplitude and frequency of the discharges (ie, dive-bomber discharges). Lain kriteria
berbeda untuk myotonia adalah waxing dan waning amplitudo dan frekuensi pembuangan
(yaitu, menyelam-bomber discharge). These discharges should last a minimum of 500
milliseconds. Pembuangan ini harus berlangsung minimal 500 milidetik. They should be
elicited in at least 3 areas outside the endplate region in order to distinguish minimal
electromyographic myotonia from insertional activity. Mereka harus ditimbulkan dalam
setidaknya 3 daerah di luar wilayah endplate untuk membedakan myotonia
elektromiografi minimal dari kegiatan insersional. Demonstration of myotonia may be
facilitated by potassium administration and cold temperature. Demonstrasi myotonia
dapat difasilitasi oleh administrasi kalium dan suhu dingin.
Motor unit action potential (MUAP): During the paralytic attack, recruitment is reduced,
with few voluntary MUAPs. Unit Motor potensial aksi (MUAP): Selama serangan
lumpuh, rekrutmen berkurang, dengan sukarela MUAPs sedikit. The amplitude and
duration of MUAPs may be reduced. Amplitudo dan durasi MUAPs dapat dikurangi. In
patients who develop myopathy, the MUAPs tend to show decreased amplitude, reduced
duration, and increased proportion of polyphasic potentials. Pada pasien yang mengalami
miopati, yang MUAPs cenderung menunjukkan amplitudo menurun, mengurangi durasi,
dan meningkatkan proporsi potensi polyphasic.
Provocative Testing Provokatif Pengujian

General precautions for such testing include (1) physician presence during testing, (2)
performance of testing in an intensive care setting, (3) avoidance of testing patients with serum
potassium disturbances, diabetes mellitus, or renal or cardiac dysfunction, (4) close monitoring
of ECG, and (5) capability for rapid electrolyte and glucose testing and correction. Pencegahan
umum untuk pengujian tersebut meliputi (1) kehadiran dokter selama pengujian, (2) kinerja
pengujian dalam pengaturan perawatan intensif, (3) menghindari pengujian pasien dengan
gangguan kalium serum, diabetes mellitus, atau disfungsi ginjal atau jantung, (4) dekat
pemantauan EKG, dan (5) kemampuan untuk elektrolit yang cepat dan pengujian glukosa dan
koreksi.
Hypokalemic periodic paralyses: Provocative testing is dangerous and is not the first line
of diagnostic testing. Hipokalemik periodik melumpuhkan: pengujian provokatif yang
berbahaya dan tidak baris pertama pengujian diagnostik.
o Oral glucose loading test: Glucose is given orally at a dose of 1.5 g/kg to a
maximum of 100 g over a period of 3 minutes with or without 10-20 units of
subcutaneous insulin. Glukosa oral uji beban: Glukosa diberikan secara oral pada
dosis 1,5 g / kg sampai maksimal 100 g selama 3 menit dengan atau tanpa 10-20
unit insulin subkutan. Muscle strength is tested every 30 minutes. Kekuatan Otot
diuji setiap 30 menit. Full electrolyte profile is tested every 30 minutes for 3 hours
and hourly for the next 2 hours. profil elektrolit Full diuji setiap 30 menit selama
3 jam dan per jam untuk 2 jam berikutnya. Weakness usually is detected within 23 hours, and if not patients should be considered for intravenous (IV) glucose
challenge. Kelemahan biasanya terdeteksi dalam waktu 2-3 jam, dan jika tidak
pasien harus dipertimbangkan untuk intravena (IV) Tantangan glukosa.
o Intravenous glucose challenge: Good IV access is essential and availability of
more than one IV line is preferred. Glukosa Intravena Tantangan: Bagus IV akses
yang penting dan ketersediaan lebih dari satu baris IV lebih disukai. Glucose is
infused IV over a period of 1 hour at a dose of 3 g/kg to a maximum of 200 g (in
water at 2 g/5 mL). Glukosa diinfuskan IV selama 1 jam pada dosis 3 g / kg
maksimal 200 g (di dalam air pada 2 g / 5 mL). If no weakness is detectable at 30
minutes, 0.1 U/kg of IV insulin is given. Jika tidak ada kelemahan terdeteksi pada
30 menit, 0,1 U / kg IV insulin diberikan. Insulin can be repeated in 60 minutes if
weakness is not detected. Insulin dapat diulang dalam 60 menit jika kelemahan
tidak terdeteksi. Strength is evaluated every 15 minutes for 2 hours. Kekuatan
dievaluasi setiap 15 menit selama 2 jam. Electrolytes, glucose, and carbon dioxide
are measured every 30 minutes and once more after the patient becomes weak.
Elektrolit, glukosa, dan karbon dioksida diukur setiap 30 menit dan sekali lagi
setelah pasien menjadi lemah. ECG is repeated every 30 minutes. EKG diulang
setiap 30 menit. The most dangerous period of the testing is between 75-150
minutes when severe hypoglycemia occurs. Periode paling berbahaya pengujian
adalah antara 75-150 menit saat terjadi hipoglikemia berat. This should be
reversed immediately. Ini harus dibalik segera.
o Intra-arterial epinephrine test: Two mcg/min of epinephrine is infused into the
brachial artery for 5 minutes and the amplitude of the CMAP is recorded from a
hand muscle. Intra-arteri epinefrin test: Dua mcg / menit dari epinefrin adalah
dimasukkan ke dalam arteri brakialis selama 5 menit dan amplitudo dari CMAP
dicatat dari otot tangan. CMAPs are recorded before, during, and 30 minutes after
infusion. CMAPs dicatat sebelum, selama, dan 30 menit setelah infus. The result
is considered positive if a decrement of more than 30% occurs within 10 minutes
of infusion. Hasilnya dianggap positif jika penurunan lebih dari 30% terjadi dalam
10 menit infus.
Hyperkalemic periodic paralyses: Potassium chloride 0.05 g/kg in a sugar-free liquid is
given orally over 3 minutes in a fasting state, just after exercise. melumpuhkan
Hyperkalemic periodik: Kalium klorida 0,05 g / kg dalam cairan gula-bebas adalah
diberikan secara oral selama 3 menit dalam keadaan puasa, hanya setelah latihan. If no
weakness occurs, an additional amount of potassium chloride (0.10-0.15 g/kg) is given.
Jika kelemahan tidak terjadi, jumlah tambahan kalium klorida (0,10-0,15 g / kg)
diberikan. Electrolyte profile, ECG, and strength are tested every 15 minutes for 2 hours
and then every 30 minutes for the next 2 hours. profil elektrolit, EKG, dan kekuatan yang
diuji setiap 15 menit selama 2 jam dan kemudian setiap 30 menit selama 2 jam
berikutnya. Weakness usually is detected between 90-180 minutes after initiation of
testing. Kelemahan biasanya terdeteksi antara 90-180 menit setelah dimulainya
pengujian.
Histologic Findings Temuan histologis

Muscle biopsy is abnormal, more typically in patients with hypokalemic periodic paralysis (PP)
than in patients with hyperkalemic periodic paralysis (PP). Biopsi otot tidak normal, lebih
biasanya pada pasien dengan kelumpuhan periodik hipokalemik (PP) dibandingkan pada pasien
dengan kelumpuhan periodik hyperkalemic (PP). Histologic findings in hypokalemic PP include
the following: Temuan histologis dalam PP hipokalemik meliputi:
The most characteristic abnormality is the presence of vacuoles in the muscle fibers.
Kelainan paling khas adalah adanya vakuola dalam serat otot. Sometimes, they fill the
muscle fibers, and in some patients, groups of vacuoles may be noted. Kadang-kadang,
mereka mengisi serat otot, dan pada beberapa pasien, kelompok vakuola dapat dicatat.
These changes are more marked in hypokalemic PP than in hyperkalemic PP. Perubahan
ini lebih ditandai dalam PP hipokalemik daripada di PP hyperkalemic. In the latter, the
vacuoles are small and peripherally located. Pada yang terakhir, vakuola kecil dan perifer
berada. Reports of muscle biopsy findings in PC are few and the vacuolar changes are
less frequent. Laporan temuan biopsi otot pada PC sedikit dan perubahan vacuolar kurang
sering.
Signs of myopathy include muscle fiber size variability, split fibers, and internal nuclei.
Tanda-tanda miopati termasuk variabilitas ukuran serat otot, serat split, dan inti internal.
Muscle fiber atrophy may be present in clinically affected muscles. serat otot atrofi
mungkin berada di dalam otot yang terkena dampak secara klinis.
Tubular aggregates may be seen in some patients. Tubular agregat dapat dilihat pada
beberapa pasien. Tubular aggregates are seen in type II fibers. Tubular agregat terlihat
dalam serat tipe II. They are subsarcolemmal in location. Mereka subsarcolemmal di
lokasi. This abnormality is seen only in hypokalemic PP. Kelainan ini terlihat hanya
dalam PP hipokalemik.
Muscle fiber necrosis is rare. Otot serat nekrosis jarang.
Treatment
Medical Care
Treatment is often necessary for acute attacks of hypokalemic periodic paralysis but seldom for
hyperkalemic periodic paralysis. Prophylactic treatment is necessary when the attacks are
frequent.
Hypokalemic periodic paralyses

o During attacks, oral potassium supplementation is preferable to IV
supplementation. The latter is reserved for patients who are nauseated or unable to
swallow. Potassium chloride is the preferred agent for an acute attack (assuming a
normal renal function).10 A reasonable initial dose for a 60-120 kg man (ie, 0.5-1
mEq/kg) is 60 mEq. Typically, 40-60 mEq of K+ raises the potassium
concentration by 1.0-1.5 mEq/L, and 135-160 mEq of K+ raises plasma potassium
by 2.5-3.5 mEq/L. Aqueous potassium is favored for quicker results. If there is no
response in 30 minutes, an additional 0.3 mEq/kg may be given. This should be
repeated up to 100 mEq of potassium. Beyond this, monitoring of serum
potassium is warranted prior to further supplementation. Typically, one should not
exceed a total dose of 200 mEq in a day.
o Intravenous potassium is reserved for cardiac arrhythmia or airway compromise
due to ictal dysphagia or accessory respiratory muscle paralysis. IV potassium
chloride 0.05-0.1 mEq/kg body weight in 5% mannitol as a bolus is preferable to
continuous infusion. Mannitol should be used as solvent, as both sodium and
dextrose worsen the attack. Only 10 mEq at a time should be infused with
intervals of 20-60 minutes, unless in situations of cardiac arrhythmia or
respiratory compromise. This is to avoid hyperkalemia at the end of an attack with
shift of potassium from intracellular compartment into the blood. Continuous
ECG monitoring and sequential serum potassium measurements are mandatory.
o For prophylaxis, acetazolamide is administered at a dose of 125-1500 mg/d in
divided doses. Dichlorphenamide 50-150 mg/d has been shown recently to be
equally effective. This can be used as a first line of therapy or in patients who
became refractory after initial improvement with acetazolamide. Potassiumsparing diuretics like triamterene (25-100 mg/d) and spironolactone (25-100
mg/d) are second-line drugs to be used in patients in whom the weakness worsens,
or in those who do not respond to carbonic anhydrase inhibitors. Spironolactone
may cause gynecomastia, but this is less with eplerenone. Blood pressure
monitoring is advised. Because these diuretics are potassium sparing, potassium
supplements may not be necessary.
Thyrotoxic periodic paralysis: Treatment consists of controlling thyrotoxicosis and betablocking agents. Potassium supplementation, propranolol, and spironolactone may be
helpful during the attacks as well as for prophylaxis. Propranolol in doses of 20-40 mg
twice a day may be sufficient to control recurrent attacks of periodic paralysis.
Hyperkalemic periodic paralyses
o Fortunately, attacks are usually mild and rarely require treatment. Weakness
promptly responds to high-carbohydrate foods. Beta-adrenergic stimulants, such
as inhaled salbutamol, also improve the weakness (but are contraindicated in
patients with cardiac arrhythmias).
o In severe attacks, therapeutic measures that reduce hyperkalemia are utilized.
Continuous ECG monitoring is always needed during the treatment. Thiazide
diuretics and carbonic anhydrase inhibitors are used as prophylaxis. Thiazide
diuretics have few short-term side effects; they are tried as first-line treatment.
Occasionally, thiazide diuretics may result in paradoxical hypokalemic weakness,
which responds to potassium supplementation.
Paramyotonia congenita: Because weakness is uncommon, treatment is aimed at reducing
myotonia. While the above-mentioned diuretics can be tried, they are often not effective.
Mexiletine has been shown to be helpful but is contraindicated in patients with heart
block.
Potassium-associated myotonia: Treatment with mexiletine or a thiazide diuretic may
reduce the severity of the myotonia.
Andersen-Tawil syndrome
o A combination of amiodarone and acetazolamide resulted in a long-lasting
improvement in one study.11
o Implantation of a cardiac defibrillator has rarely been performed.
o Carbonic anhydrase inhibitors are used for preventing periodic paralysis.
o Potassium supplementation prevents periodic paralysis and also reduces cardiac
arrhythmia, shortening the QT interval.
o For the control of cardiac symptoms, -blockers or calcium channel blockers may
be used.
o Flecainide has been shown to be successful in treating bidirectional ventricular
tachycardia, ventricular ectopy, and tachycardia-induced cardiomyopathy.12
Surgical Care
Malignant hyperthermia susceptibility has been noted in HypoPP with calcium channel
mutations. It is prudent to monitor all patients with periodic paralysis for this complication.
Diet
Hypokalemic periodic paralyses: Low-carbohydrate and low-sodium diet may decrease

the frequency of attacks.
Hyperkalemic periodic paralyses: Glucose-containing candy or carbohydrate diet with
low potassium may improve the weakness.
Medication
The goals of pharmacotherapy are to reduce morbidity and prevent complications.
Carbonic anhydrase inhibitors

Carbonic anhydrase (CA) is an enzyme found in many tissues of the body, including the eye. It
catalyzes a reversible reaction whereby carbon dioxide becomes hydrated and carbonic acid
dehydrated.
Acetazolamide (Diamox)
Exact mechanism of action unknown. In hypokalemic PP, may decrease potassium inflow to
muscle because of metabolic acidosis. In hyperkalemic PP, kaliopenic effect of CA inhibitors
may be beneficial. Recent data suggest carbonic anhydrase inhibitors activate skeletal muscle
BK channel (Ca2+ -activated potassium channel).
Dosing
Interactions
Contraindications
Precautions
Adult
125-1000 mg/d PO
Pediatric
Not established
Dosing
Interactions
Contraindications
Precautions
Can decrease therapeutic levels of lithium and alter excretion of drugs (eg, amphetamines,
quinidine, phenobarbital, salicylates) by alkalinizing urine
Dosing
Interactions
Contraindications
Precautions
Documented hypersensitivity; hypersensitivity to sulfonamides or thiazide diuretics;

hyponatremia; hypokalemia; hepatic or renal insufficiency; hyperchloremic failure; adrenal
gland failure; chronic noncongestive glaucoma
Dosing
Interactions
Contraindications
Precautions
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may
use if benefits outweigh risk to fetus
Precautions
Patients with impaired hepatic function may go into coma; may cause substantial increase in
blood glucose in some diabetic patients; caution in pulmonary obstruction and emphysema; may
cause drowsiness, paresthesias with increasing doses, aplastic anemia, thrombocytopenia
Dichlorphenamide (Daranide)
May improve clinical condition of patients with hypokalemic PP or hyperkalemic PP. Kaliopenic
effect of CA inhibitors may be beneficial.
Dosing
Interactions
Contraindications
Precautions
Adult
50-150 mg PO qd
Pediatric
Not established

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Berkala Paralyses

Author: Naganand Sripathi, MD, Director, Neuromuscular Clinic, Department of Neurology,

Print This Cetak ini

melumpuhkan periodik primer, ditunjukkan pada Tabel 1, termasuk bentuk hipokalemik,

Sodium channel Sodium

Hyperkalemic PP (HyperPP) Hyperkalemic PP (HyperPP)

Andersen-Tawil syndrome Andersen-Tawil syndrome

Hyperkalemic periodic paralyses Hyperkalemic periodik melumpuhkan

tirotoksikosis diperkirakan 0,1-0,2% di Kaukasia dan 13-14% di Cina. Ninety-five

Severe Parah Occasional

Third and Few hours to 7

Severe Parah Occasional

Third and Few hours to 7

Other Problems to Be Considered Masalah lain untuk Be Dianggap

Addison disease Penyakit Addison

Drugs - Amphotericin B, barium Obat - Amfoterisin

Laxative abuse Penyalahgunaan pencahar

Drugs - Amphotericin B, barium Obat - Amfoterisin

Addison disease Penyakit Addison

Laxative abuse Penyalahgunaan pencahar

Pattern and Pola dan

Transient ischemic attacks Serangan iskemik

Sleep attacks Tidur serangan

Myasthenia gravis Myasthenia gravis

Peripheral neuropathy of acute onset Neuropati

Subacute in onset Subakut di awal

Acute inflammatory Inflamasi akut

Clinical presentation Presentasi klinis

Transient ischemic attacks Serangan iskemik

Pattern and Pola dan

Sleep attacks Tidur serangan

Myasthenia gravis Myasthenia gravis

Peripheral neuropathy of acute onset Neuropati

Subacute in onset Subakut di awal

Acute inflammatory Inflamasi akut

May have sensory symptoms and signs

Clinical presentation Presentasi klinis

Workup Hasil pemeriksaan

Lower GI loss Laxative abuse, diarrhea Lower GI

Surreptitious vomiting Diam-diam muntah

DKA, type 1 or type 2 distal RTA DKA, tipe 1 atau

Diuretic use, Bartter syndrome, Gitelman syndrome

Primary aldosteronism, Cushing syndrome, renal

Lower GI loss Laxative abuse, diarrhea Lower GI

Surreptitious vomiting Diam-diam muntah

DKA, type 1 or type 2 distal RTA DKA, tipe 1 atau

Diuretic use, Bartter syndrome, Gitelman syndrome

Primary aldosteronism, Cushing syndrome, renal

in leads II, V 2 , V 3 , and V 4 , and ST-segment depression). EKG dapat menunjukkan

Other Tests Tes Lainnya

Muscle cooling Otot pendinginan

Cooling of muscle to 20C leads to force reduction and prolonged twitch-relaxation in PC

Exercise test in periodic paralyses Latihan tes dalam melumpuhkan periodik

Para- ParaHyper- HyperHypo- Hypomyotonia myotonia kalemic kalemic

Hypo- Hypokalemic kalemic

Needle electrode examination Elektroda jarum pemeriksaan

Insertional activity: The presence of myotonia usually excludes the diagnosis of

Provocative Testing Provokatif Pengujian

Histologic Findings Temuan histologis

Hypokalemic periodic paralyses

Hypokalemic periodic paralyses: Low-carbohydrate and low-sodium diet may decrease

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

Carbonic anhydrase inhibitors

Documented hypersensitivity; hypersensitivity to sulfonamides or thiazide diuretics;