Diagnostic Difficulties of Duchenne Muscular Dystrophy in Madagascar

MBOLANIRINA LALA RAKOTOMAHEFA NARISON, ABA Ratsimbazafy, AL Rakotozanany, L. Ravelomanana, HS Raobijaona

Abstract


Duchenne muscular dystrophy is a rare genetic disease characterized by a deficiency of dystrophin. It is serious because of its functional impact, and secondarily vital. An observation in a boy of ten years of a clinical myogenic syndrome is reported. This condition involves a diffuse atrophy with predominantly proximal muscle weakness without sensory impairment. Serum creatine kinase is high. Rarefaction with unequal muscle fiber size was found on histological examination. On the occasion of this singular observation, the authors recall the main features of the disease and highlight the technical difficulties in diagnosis in Madagascar.


Keywords


Myopathy, Genetic, Creatine Kinase, Muscle Biopsy, Duchenne

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References


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