Inherited myopathy, MD
Symptoms vary with the different types of muscular dystrophy.
All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
The doctor's exam may show:
Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build-up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.
Other tests may include:
This disease may also alter the results of the following tests:
Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 608.
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