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Abstract

July to September 2019 | Vol. 12 | Issue 3 | 06-13
Congenital Myopathies: An Overview
Gayatri Nerakh1, Megha Uppin2, Prajnya Ranganath1
1Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India, 2Department of Pathology, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Congenital myopathies (CM) are a clinically and genetically heterogeneous group of disorders affecting the skeletal muscles. Hypotonia, hyporeflexia and muscle weakness are common clinical presentations but the severity can be very variable ranging from the severe form with death in early infancy to the milder form with survival until adulthood. Most types have typical histopathological features which help in characterization, but molecular genetic testing helps in more definitive etiological diagnosis. An overview of the classification, clinical presentations, histopathological features and management of congenital myopathies is presented here.
 
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