Résumé :
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Background: Congenital myopathies are a group of neuromuscular disorders, mostly occurring in childhood, chiefly in a familial fashion but occasionally occur in sporadic fashion. Through this paper, the authors present a clinicopathological analysis of 43cases. The information on congenital myopathy from India is limited. In a large series from Japan, 597 cases were diagnosed over a period of 28 years. Materials & methods: The clinical data of patients who were diagnosed with congenital myopathy during 2001 -2010 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunochemistry. Biopsies were also processed for ultrastructural analysis wherever required. Results: Nemaline rod myopathy, central core disease, multi-mini core disease (9 each) were most common followed by congenital fibre type disproportion myopathy(7), desmin related myopathies(2), centronuclear myopathy(3) and unclassified(4).Clinically, they had variable features and final diagnosis was made with help of enzyme histochemistry and ultrastructural features. Despite their genetic heterogeneity, clinical features have some characteristics in common. Main symptoms were generalized muscle weakness and hypotonia, typically presenting at birth or infancy. The clinical severity was variable from mild motor CONGENITAL MYOPATHIES 61 weakness to a severe form characterize by marked hypotonia at birth. Muscle weakness onset in this series was variable from birth to adolescence. Cardiac ivolvement was rare and intelligence was usually normal. Clinically,the next immediate differential diagnosis kept in most cases were spinal muscular atrophy and congenital muscular dystrophy. Serum creatine kinase level was normal in most cases or mildly elevated and EMG showed myopathic pattern. Conclusion: This study emphazises the need of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies .
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