Medknow Publications on behalf of the Neurological Society of India
Vol. 53, No. 2, 2005, pp. 229-231
Bioline Code: ni05072
Full paper language: English
Document type: Research Article
Document available free of charge
Neurology India, Vol. 53, No. 2, 2005, pp. 229-231
© Copyright 2005 Neurology India.
Case Report - Desmin-related myopathy: Report of a rare case|
Sridhar E., Sharma M.C., Sarkar C., Singh S., Das T.
The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the encoding genes. Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin intermediate network in the muscle fibers. We describe a rare case of DRM in a 23-year-old man who presented with complaints of difficulty in climbing stairs and running since the age of 5 years. EMG studies revealed a myopathic pattern. Muscle biopsy showed the features of muscular dystrophy with bluish rimmed vacuoles and sarcoplasmic inclusions, which were immunoreactive to desmin. Ultrastructural examination showed sarcoplasmic bodies and granulofilamentous inclusions. Although rare, the possibility of DRM/desminopathy should be considered in the presence of bluish rimmed vacuoles on light microscopy and characteristic ultrastructural inclusions. To the best of our knowledge this is the first case of DRM/desminopathy reported from India.
Desminopathy, Desmin-related myopathy, Protein surplus myopathies, Congenital myopathies, Protein aggregating myopathies
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