CONGENITAL MYOPATHIES: A CLINICOPATHOLOGICAL STUDY OF 18 CASES

Objectives: Objectives: Congenital myopathies are a group of neuromuscular disorders, mostly of childhood onset, often of slow progression, but exceptionally having more rapid course. They show disease specific structural changes in the muscle which are detected by enzyme histochemistry, and electron microscopy but sometimes with immunohistochemistry. We report a series of 18 cases of congenital myopathy, which to the best of our knowledge is first largest series from India.

Material & Methods: Conducted at Myopathy Clinic, Department of Pediatrics, All India Institute of Medical Sciences. All cases between January 2001 and October 2005 diagnosed as congenital myopathies were studied. Clinical data and muscle biopsies were reviewed. Results: During this period 1088 new patients were registered in the Myopathy Clinic. Out of these 18 patients were diagnosed as congenital myopathies: Central core disease 6; Multi mini core disease 3; Centronuclear myopathy 2; Nemaline myopathy 4; Congenital fibre type disproportion 3. Age ranged from newborn to 12 years. All presented in the first decade of life. The most common findings were difficulty in running and getting up in majority, followed by generalized hypotonia in one-third, facial dysmorphism in one-fourth, high arched palate in 2 and ptosis in one. Family history of similar illness was present in two cases. Creatine phosphokinase levels were either normal or mildly elevated. Electromyography was done in 15 patients, of which 11 showed myopathic changes, 3 were normal and 1 was suggestive of neurogenic pattern. Conclusions: We are able to categorize the various congenital myopathies with available investigations and one should have a high index of suspicion for them.