Emery-Dreifuss muscular dystrophy is a disease transmitted byautosomal dominant, recessive (rarely) or X-linked. The incidenceis not known. Women can be carriers, but only men can beaffected with the clinical forms of X-linked transmission. GeneEmery-Dreifuss dystrophy involved in coding for a protein callednuclear membranes emerina.
Amyotrophy (muscle atrophy) and weakness may occur before the age of 20 years, usually affecting the arm muscles (biceps, triceps)and more rarely, the muscles of the legs. Emery-Dreifuss dystrophycan affect the heart, involving paralysis fibrillation, conduction abnormalities (atrioventricular block), cardiomyopathy (damage toheart muscle) and an increased risk of sudden death.
Diagnosis is based on clinical data, age of onset, family historyand are supported by the slight increase in the level of serumcreatinine by electromyography and muscle biopsy. DNA testsconfirm the diagnosis.
Treatment aims to prevent contractures. Using a pacemaker(pacemaker) is indicated in patients with conduction disturbances(AV block).
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