Definition
Refers to a group of hereditary progressive
diseases. Muscular Dystrophy affects muscular
strength and action, some of which first become
obvious in infancy, and others which develop in
adolescence or young adulthood. The syndromes are
marked by either generalized or localized muscle
weakness, difficulties with walking or maintaining
posture, muscle spasms, and in some instances,
neurological, behavioral, cardiac, or other functional
limitations.
Clinical Features
Duchenne
Before 5
1.Progressive weakness of
girdle muscles.
2.unable to walk after age 12
3.progressive kyphoscoliosis
4.Respiratory failure in 2dor 3d
decade.
Cardiomyopathy
Mental impairment
Becker
5-25yr
1.Progressive weakness of
girdle muscles
2. able to walk after
age
15.
1.3. respiratory failure may
develop by 4th grade
Cardiomyopathy
Emery-Dreifuss
Childhood to adult
Cardiomyopathy
Limb-Girdle
Cardiomyopathy
Clinical Features
Congenital
.Hypotonia, contractures,
delayed milestones
Progression to respiratory
failure in some;
CNS and
Eye abnormalities
Facioscapulohumeral
Before age 20
Deafness
Coats (eye) disease
Oculopharyngeal
Myotonic
______
Pathophysiologic
the exact mechanism is unknown, but there are 3 theories
Vascular theory:
the lack of blood flow causes
the typical degeneration of muscle tissue.
Neurogenic theory:
Disturbance in nerve-muscle
interaction.
Membrane theory:
the cell membranes are
genetically altered, causing a compromise in cell
integrity. An increase in the activity of muscle proteolytic
enzymes may accompany the membrane alteration.
Leaving the muscle cell vulnerable to degeneration.
Symptoms
Muscle weakness
Delayed development of muscle motor skills
Problems walking (delayed walking)
Difficulty using one or more muscle groups (depends on
the type of dystrophy)
Eyelid drooping (ptosis)
Drooling
Hypotonia
Mental retardation ( only present in some types of MD)
Joint contractures (clubfoot, clawhand or others)
Scoliosis
Laboratory Test
Muscle biopsy: the primary test used to confirm the diagnosis.
DNA test
Serum CPK (creatine phosphokinase-an enzyme found in muscle) may be elevated.
EMG (electromyography) may confirm that weakness is caused by destruction of muscle tissue rather
than damage to nerves.
ECG (electrocardiography) to monitor changes in cardiac status.
Myoglobin - urine/ serum: When muscle is damaged, the myoglobin is released into the
bloodstream. It is filtered out of the bloodstream by the kidneys, and eliminated in urine. In
large quantities, myoglobin can damage the kidney and break down into toxic compounds,
causing kidney failure.
LDH: LDH is most often measured to evaluate the presence of tissue damage. The enzyme LDH is
in many body tissues, especially the heart, liver, kidney, skeletal muscle, brain, blood cells,
and lungs.
Creatinine : A normal (usual) value is 0.8 to 1.4 mg/dl. Creatinine is a breakdown product of
creatine, which is an important constituent of muscle. A serum creatinine test measures the
amount of creatinine in the blood. Greater-than-normal levels may indicate: Muscular
dystrophy. Lower-than-normal levels may indicate: Muscular dystrophy (late stage)
AST: The normal range is 10 to 34 IU/L. An increase has many indications, one of them being
progressive MD.
Aldolase: Why the test is performed? This test is indicator ofmuscle damage.
Nursing Diagnosis
Impaired mobility, activity intolerance, risk
for injury, risk for aspiration, risk for
impaired skin integrity, self-care deficit,
knowledge deficit, caregiver role strain,
low self-esteem, social isolation, disturbed
body image, and hopeless to name a few.
Bibliography
Cart, Greg. Rehabilitation Management of
Neuromuscular Disease.
http://www.emedicine.com/pmr/topic233.htm .
Cox, Helen C., RN, C, EdD, FAAN. Clinical Applications
of Nursing Diagnosis. 4th
Edition. F.A. Davis
Company. Philadelphia, PA: 2002.
Ignatavicius, Donna, MS, RN, CM. Medical-Surgical
Nursing. 4th Edition. W.B.
Saunders Company.
Philadelphia, PA: 2002.
Muscular Dystrophy Association website:
http://www.mdausa.org.
Harrisons Principles of internal Medicine 15th edition,
McGraw-Hill Medical Publishing Division, New York.
2002.