Muscular dystrophy

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Superficial anterior muscles

Overview

Symptoms

Treatment

Prevention

Muscular dystrophy

Alternative Names:

Inherited myopathy; MD

Symptoms:

Symptoms vary with the different types of muscular dystrophy. Some types, such as Duchenne muscular dystrophy, are ultimately fatal while other types have associated muscle weakness but cause little disability and are associated with normal life expectancy.

The muscles primarily affected vary, but can be around the pelvis, shoulder, face or elsewhere. The age of onset can vary as well, with more severe subtypes tending to occur earlier in childhood.

muscle weakness
- progressive
- frequent falls
- delayed development of muscle motor skills
- problems walking (delayed walking)
- difficulty using one or more muscle groups (the specific muscles affected depends on the type of MD)
- eyelid drooping (ptosis)
- drooling
mental retardation (only present in some types of MD)
hypotonia (low muscle tone)
joint contractures (clubfoot, clawhand, or others)
scoliosis (curved spine)

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 tissuethat makes the muscle appear larger (pseudohypertrophy).

Joint 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 may be the primary test used to confirm the diagnosis. In some cases a DNA test from the blood may be sufficient.

Serum CPK (an enzyme found in muscle) 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 monitor changes in cardiac status.

This disease may also alter the results of the following tests:

Review Date: 7/4/2004
Reviewed By: Andrew L. Chen, M.D., M.S., Steadman-Hawkins Sports Medicine Foundation, Vail, CO. Review provided by VeriMed Healthcare Network.

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