Muscular dystrophy
Alternative names:
inherited myopathy; MD
Symptoms:
Symptoms vary with the different types of muscular dystrophy. Certain types, such as Duchenne dystrophy, are ultimately fatal while other types have associated muscle weakness but cause little disability. - muscle weakness
- progressive
- frequent falls
- delayed development of muscle skills
- problems walking
- difficulty using a muscle group (the specific muscle affected depends on the type of MD)
- eyelid drooping (ptosis)
- drooling
- intellectual retardation
- only present in some types of MD
- hypotonia
- skeletal deformities
- muscle deformities
- contracture deformities (clawfoot, clawhand or others)
- scoliosis
- enlargement of the calve muscles (pseudohypertrophy)
Signs and tests:
Examination and history help to distinguish the type of MD. Specific muscle groups are affected by different types of MD. Often, there is a loss of muscle mass (wasting), which may be disguised in some types of muscular dystrophy by an accumulation of fat and connective tissue making the muscle appear larger (pseudohypertrophy). Muscle contractures are common. Shortening of the muscle fibers, fibrosis of the connective tissue and scarring slowly destroy muscle function. Some types of MD involve the heart muscle, causing cardiomyopathy or arrhythmias. - A muscle biopsy is the primary test used to confirm the diagnosis.
- A serum CPK may be elevated.
- An EMG (electromyography) may confirm that weakness is caused by destruction of muscle tissue rather than damage to nerves.
- An ECG (electrocardiography) to monotor changes in cardiac status
This disease may also alter the results of the following tests:
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