Duchenne muscular dystrophy

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.^[1][2] The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.^[1]

Russell-Silver syndrome and muscular dystrophy are very different types of disorders with little overlap of signs and symptoms; Russell-Silver syndrome does not mimic muscular dystrophy. Russell-Silver syndrome is a growth disorder and is characterized by slow growth before and after birth, poor appetite, short stature, a small, triangular face with distinctive facial features, and other manifestations^[3]; the muscular dystrophies are a group of muscle disorders characterized by progressive weakness and degeneration of the skeletal muscles and/or cardiac muscles.^[1] The differential diagnosis of Russell-Silver syndrome includes any condition that can cause intrauterine growth retardation and short stature, as well as some chromosome abnormalities^[4], while that of the muscular dystrophies includes conditions affecting the skeletal muscles.