Muscular dystrophy (inherited muscle disease)


Description

Refers to a group of more than 30 inherited diseases that cause muscle weakness and muscle loss. The muscles are unusually susceptible to damage. Symptoms first appear at various ages, from infancy to middle age, but all forms become worse with age and are progressive. The different muscular dystrophies vary in who they affect and the symptoms.

Symptoms

Symptoms vary but include: muscle weakness, apparent lack of coordination, progressive difficulty walking or performing tasks, frozen joints, frequent falls.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical exam will be done. Other tests that may be done to confirm the diagnosis include: blood tests, electromyography, ultrasound, muscle biopsy, and genetic testing.

Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), Ultrasound

Other Specific Tests: electromyography, muscle biopsy, genetic testing

Specialists:
Neurology, Pediatrics, Pediatric Neurology

Treatment

There is no cure for muscular dystrophy. Therapy depends on the severity of the symptoms and includes medications for muscle weakness and spasm: mexiletine (Mexitil), phenytoin (Dilantin, Phenytek), baclofen (Lioresal), dantrolene (Dantrium) and carbamazepine (Tegretol). Steroids and immunosuppressive medications are sometimes used to decrease the muscle destruction. Other treatments including physical therapy, bracing devices, and surgery are used.
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