[Autosomal recessive severe, proximal myopathy in children, common in Tunisia].
The genetic clinical, biological and histological study in five families with a muscular dystrophy are reported. The disease appears to be progressive, affecting both sexes, beginning often in infancy, severe at least in one of the siblings and variable from one case to the other. Hypertrophy of the calves, and weakness of the limb girdle as well as the trunk is present. CPK are much increased. Muscle biopsy shows active degeneration and regeneration. The genetic transmission is suggested to be autosomal recessive. Peculiar attention is drawn to the high incidence (75 per cent) of consanguinity of these cases.
D000293:Adolescent; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014416:Tunisia
D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase
Une myopathie proximale et sévère de l'enfance récessive autosomique, fréquente en Tunisie.