Abstract
Duchenne muscular dystrophy is an inherited disease characterized by progressive muscle degeneration and usually affects boys. The authors reported at the neurology department of the national hospital in Niamey, the case of a family whose boys presented proximal motor deficits in all four limbs, and whose mothers were carriers of cardiomyopathy. The first generation consisted of seven boys and four girls, among which, three boys died of walking disability and breathing disorders, and two of unknown cause. Also, the three girls were carriers of cardiomyopathy and the other died of unknown cause. In the second generation, three boys had died (unknown cause), two were alive and aged 10 and 14 years with walking disability whose balance sheets were abnormal, including CPK (creatinine phosphokinase) and myoglobin. The genetic test showed an out-of-phase duplication of exons 8 to 18 in the latter. Duchenne muscular dystrophy is a rare disease. It is important to think about it when there is a family history of limb-girdle deficit in boys, and to systematically search for cardiac disorders in mothers.
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