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 ORIGINAL ARTICLE
Year : 2021  |  Volume : 16  |  Issue : 3  |  Page : 184-193

Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India


1 Department of Neurology, Institute of Human Behaviour & Allied Sciences, Delhi, India
2 Department Neuropathology, Institute of Human Behaviour & Allied Sciences, Delhi, India
3 Department of Neurology, Pandit Bhagwat Dayal Sharma Medical College, Rohtak, Haryana, India

Correspondence Address:
Dr. Siddharth Maheshwari
Department of Neurology, Institute of Human Behavior and Allied Sciences, Dilshad Garden, New Delhi 110095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_32_20

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Objective: Congenital myopathies (CMs) are rare neuromuscular disorders. Through this article, authors want to present a clinicopathological study of 10 cases of CM. Materials and Methods: The study included patients with histopathologically confirmed CM attending the neurology services at the Institute of Human Behavior and Allied Sciences for 2 years. After collecting the demographic data, all patients were subjected to comprehensive workup including a detailed neurological examination and investigations, including muscle biopsy from representative involved muscle. Results: Ten patients diagnosed with CM. The most common CM type was congenital fiber-type disproportion (CFTD) seen in four cases followed by centronuclear myopathy in two cases and one each in desmin-related myopathy, central core disease, nemaline myopathy, CM with type II fiber hypoplasia. Clinically, they have variable features. Conclusion: This study from India highlights the importance of specific clinical features to look for when suspecting a CM coupled with specific features in histopathology. However, studies with longer duration are needed to find out the true prevalence and various spectra of CMs.






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