Journal of Pediatric Neurosciences
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


Siddharth Maheshwari1, Ishita Pant2, Kiran Bala3, Vibhor Paradasani1 
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

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.


How to cite this article:
Maheshwari S, Pant I, Bala K, Paradasani V. Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India.J Pediatr Neurosci 2021;16:184-193


How to cite this URL:
Maheshwari S, Pant I, Bala K, Paradasani V. Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India. J Pediatr Neurosci [serial online] 2021 [cited 2022 Dec 9 ];16:184-193
Available from: https://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2021;volume=16;issue=3;spage=184;epage=193;aulast=Maheshwari;type=0