Muscular dystrophy

Muscular dystrophy - squatting position due to proximal...

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Muscular dystrophy Muscular dystrophies are a group of illness characterized by progressive skeletal muscle weakness resulting in mild to severe disability. Duchenne muscular dystrophy DMD is the most common childhood form of muscular dystrophy with an incidence of 1/300. DMD is inherited as an X-linked disorder, however 1/3 of cases are a result of spontaneous mutation. The locus is on the Xp21 region of the X-chromosome resulting in the absence of the protein dystrophin. Dystrophin is a protein that is essential for cell membrane stability where it joins the membrane actin filaments. Clinical features Clinically DMD patients (always boys) present around the age of 4 years. They are noticed to have difficulty running or rising to their feet off the floor. Aside from these there are many other features which may lead to the suspicion of DMD: delayed walking abnormal gait (lordotic, waddling) difficulty climbing stairs frequent falls Gower's sign (patient that has to use his hands and arms to "walk" up his own body from a
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Unformatted text preview: squatting position due to proximal myopathy) • pseudohypertrophy of calves • Muscle wasting (those muscles affected) • Later in the progression of DMD abnormal bone development may lead to skeletal deformities, including scoliosis. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Often, patients are wheelchair-bound by 12 and the condition is frequently fatal by the age of 20. Investigations Diagnosis is often made on clinical grounds alone. Creatinine phosphokinase levels in the blood are elevated to levels 100-200 times normal. EMG shows weakness caused by muscular tissue degeneration rather than neural damage. Muscle biopsy shows: • characteristic variation in muscle fibre size • fibre necrosis • fat replacement • absence of dystrophin on immunochemical staining...
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This note was uploaded on 12/04/2011 for the course ANTHRO 2000 taught by Professor Monicaoyola during the Fall '10 term at Broward College.

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Muscular dystrophy - squatting position due to proximal...

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