As muscles deteriorate, patients become weaker. In the severe forms of the disease, patients lose the power of ambulation and are confined to wheelchairs, and eventually to bed. In such cases, they are finally unable to carry out the simplest activities of everyday life. The age of onset, distribution and severity of muscle weakness, and the pattern of inheritance indicated by a family history provide essential information in the diagnosis of muscular dystrophy. Examination of a muscle biopsy is the most definitive procedure for confirming the presence of degeneration.
Electromyography is also a valuable diagnostic tool, as is the measurement of various serum enzymes.
It is now well established that all forms of muscular dystrophy are hereditary conditions with the genetic defect transmitted by one parent in some forms of the disease and by both parents in other types. However, there are many cases of muscular dystrophy in families with no known history of the disease. This is explained, in Duchenne dystrophy by a high spontaneous mutation rate. At this time, there is no known treatment that will arrest or reverse the dystrophic process, but medical management can increase mobility, maximize independence in daily activities, and ease the patient's discomfort. The use of orthopedic devices and physiotherapy, for example, can keep patients ambulatory longer, minimize crippling contractures, and prevent or delay curvature of the spine.