Friday, April 24, 2009

Muscular System - Duchenne muscular dystrophy


Disease/Disorder: Duchenne muscular dystrophy

Common Name: DMD

Age of Onset: DMD can be detected at birth, but is mmost often detected in patients at 3-7 years by the development of lordosis, a waddling gait, and the Gowers sign. About 1-2 years after these symptoms appear, Calf pseudohypertrophy appears and most patients are wheelchair bound by age 12 years.

Duration: This is a chronic coundition, so a person with DMD will have it for their whole life

Commonness: DMD afflicts 1 in 3300 boys with an overall prevalence of 63 cases per million, making it the most prevalent

Cause: One third of the cases of DMD are due to spontaneous mutations, while the rest are inherited in an X-linked dominant manner.

Symptoms:


  • lordosis

  • wide gait

  • toe walking

  • gowers sign (pushing on the knees to stand due to leg muscle weakness)

  • calf enlargement (with fatty tissue or degenerated muscle

  • progressive weakness starting in the lower limbs and moving up through the body
Prognosis: DMD is a progressive muscle degenerative disease where the muscle tissue is replaced by adipose tissue or other connective tissues. The transformation begins wasting away the muscles in the legs and pelvis before it spreads to the sholders and neck. Patients with this condition have limited moter skills and must be confined to a wheel chair early in life. This disease opens patients to a number of health difficulties. Skeletal muscle weakness can lead to cardiopulmonary complications, and Scoliosis can develop, imparing pulmonary or gastrointestinal function

Sources: Web MD

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