Scribd Logo
Unggah

Selamat datang di Scribd!

  • 2.myopathy 03

    Diunggah oleh

    Reyhan Calabro
    19 tayangan20 halaman
    Dystrophin is a major protein of the normal muscle membrane (sarcolemma) autosomal dominant expansion of trinucleotide repeat on chromosome 19q normal individuals have 5-35 repeats, patients have 50-2000 repeats correlation between number of repeats severity of disease associated with systemic abnormalities Kuliah April 2008.FKK-UMJ hereditary autoimmune systemic disease toxic infectious.

    Deskripsi Asli:

    Judul Asli

    2.Myopathy 03

    Hak Cipta

    © Attribution Non-Commercial (BY-NC)

    Format Tersedia

    PPT, PDF, TXT atau baca online dari Scribd

    Apakah menurut Anda dokumen ini bermanfaat?

    Apakah konten ini tidak pantas?

    Laporkan Dokumen Ini
    Dystrophin is a major protein of the normal muscle membrane (sarcolemma) autosomal dominant expansion of trinucleotide repeat on chromosome 19q normal individuals have 5-35 repeats, patients have 50-2000 repeats correlation between number of repeats severity of disease associated with systemic abnormalities Kuliah April 2008.FKK-UMJ hereditary autoimmune systemic disease toxic infectious.

    Hak Cipta:

    Attribution Non-Commercial (BY-NC)
    Unduh sebagai PPT, PDF, TXT atau baca online dari Scribd
    Tandai sebagai konten tidak pantas
    19 tayangan20 halaman

    2.myopathy 03

    Diunggah oleh

    Reyhan Calabro
    Dystrophin is a major protein of the normal muscle membrane (sarcolemma) autosomal dominant expansion of trinucleotide repeat on chromosome 19q normal individuals have 5-35 repeats, patients have 50-2000 repeats correlation between number of repeats severity of disease associated with systemic abnormalities Kuliah April 2008.FKK-UMJ hereditary autoimmune systemic disease toxic infectious.

    Hak Cipta:

    Attribution Non-Commercial (BY-NC)
    Unduh sebagai PPT, PDF, TXT atau baca online dari Scribd
    Tandai sebagai konten tidak pantas
    dari 20

    Myopathy (Muscle Disease)

    Anwar Wardy W*
    08.25 09.15 Maret 22, 2010
    Kuliah April 2008.FKK-UMJ *Neurologist, Dipl.Forensic Medicine

    Dokter dengan Tingkat Kemampuan 1


    Dapat mengenali dan menempatkan gambaran klinik sesuai penyakit ini ketika membaca literature. Dalam korespondensi dapat mengenali gambaran klinik dan tahu bagaimana mendapatkan informasi lanjut..)))) dosen dll Overview level: bila hadapi pasien dengan gambaran ini dan menduga penyakitnya. Segera merujuk.
    anwar wardy w fkk umj

    Etiology of muscle diseases



    Kuliah April 2008.FKK-UMJ

    hereditary autoimmune systemic disease toxic infectious

    *Neurologist, Dipl.Forensic Medicine

    Muscular dystrophies
    childhood disorders with
    progressive muscle weakness recessive inheritance, many de novo mutations

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine Gowers sign

    X-linked muscular dystrophies


    Duchenne (DMD) - small children, Becker
    (BMD) - young adults frequent new mutations frequent disease: 1:3000 male childbirths same molecular defect dystrophin is a major protein of the normal muscle membrane (sarcolemma) dystrophin is absent in Duchenne, underdeveloped in Becker
    *Neurologist, Dipl.Forensic Medicine

    Kuliah April 2008.FKK-UMJ

    (Limb girdle muscular dystrophies)


    LGMD1A LGMD1B LGMD2A LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F Kuliah April
    2008.FKK-UMJ

    Sarcoglycanopathies

    5q myotilin 1q lamin 15q calpain 2p dysferlin 13q -sarcoglycan 17q -sarcoglycan 4q -sarcoglycan 5q -sarcoglycan *Neurologist, Dipl.Forensic Medicine

    Similar phenotype in sarcoglycanopathies

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Dystrophin-sarcoglycan complex

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Immunfluorescence staining
    Dystrophin -dystroglycan -sarcoglycan

    Normal Duchenne -SGpathy

    -sarcoglycan
    -sarcoglycan -sarcoglycan utrophin

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Myotonic dystrophies
    DM1

    autosomal dominant expansion of trinucleotide repeat on


    chromosome 19q normal individuals have 5-35 repeats, patients have 50-2000 repeats correlation between number of repeats severity of disease associated with systemic abnormalities
    Kuliah April 2008.FKK-UMJ *Neurologist, Dipl.Forensic Medicine

    Myotonic dystrophies
    PROMM (DM2)

    autosomal dominant chromosome 3q gene not yet identified

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Muscle channelopathies
    Chloride Sodium
    Calcium

    Potassium
    Kuliah April 2008.FKK-UMJ

    Myotonia congenita Periodic paralysis Paramyotonia congenita Periodic paralysis Malignant hyperthermia Periodic paralysis
    *Neurologist, Dipl.Forensic Medicine

    Inflammatory myopathies
    Polymyositis / dermatomyositis characterized by subacute progressive
    muscular weakness dermatomyositis: humorally mediated polymyositis: cell-mediated immune process antigen not known
    Kuliah April 2008.FKK-UMJ *Neurologist, Dipl.Forensic Medicine

    Spinal muscular atrophy


    autosomal recessive disorder Incidence: 1 in 6000 births (second most frequent
    autosomal recessive disease of childhood) progressive muscle weakness due to degeneration of motor neurons in the spinal cord Gene: SMN (survival motor neuron) mutations or deletions in 95% of patients SMN protein promotes axon growth and maturation Kuliah April *Neurologist, Dipl.Forensic Medicine
    2008.FKK-UMJ

    Normal SMN gene


    Large inverted duplication Telomeric and centromeric copies

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    SMN defects
    SMA I 2-3 copies of SMN2

    Werdnig-Hoffman SMA II 3 copies of SMN2 SMA III 4-8 copies of SMN2 Kugelberg-Welander

    Deletion of SMN1

    Kuliah April *Neurologist, Dipl.Forensic Medicine Conversion to SMN2 2008.FKK-UMJ

    Amyotrophic lateral sclerosis


    adult degenerative motor neuron disease
    affecting upper and lower motor neurons with rapid progression

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Amyotrophic lateral sclerosis


    10% are familial (autosomal dominant 20% of familial cases have mutations in
    the SOD 1 (superoxide dismutase) gene on chromosome 21q the mutation causes a toxic gain of function of the protein excess of glutamate
    Kuliah April 2008.FKK-UMJ *Neurologist, Dipl.Forensic Medicine

    Be a good doctor!

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Buku Bacaan: Text book Neurology, Gilroy

    Thank U
    Wassalam, Wr, Wbr

    Kuliah April 2008.FKK-UMJ

    *Neurologist, Dipl.Forensic Medicine

    Anda mungkin juga menyukai