Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.

This article presents a cross-sectional study describing the clinical, genetic, motor, cognitive, and quality of life outcomes of 42 children with genetically confirmed congenital muscular dystrophies (CMDs) from North India. The most common CMD subtypes identified were collagen VI–related dystrophies (COL6-RD, 33%) and laminin α-2 related dystrophies (LAMA2-RD, 26%), followed by LMNA-related CMD (LMNA-CMD, 19%), α-dystroglycanopathies (α-DG, 9%), and CHKB-related dystrophy (5%). Motor impairment was profound, with only 45% of children ambulatory at follow-up, and the worst motor and cognitive outcomes observed in children with α-DG and LAMA2-RD. Quality of life, assessed by parent-reported Pediatric Quality of Life Inventory (PedsQL), correlated negatively with motor disability and respiratory complications, being lowest in α-DG patients. The study highlights diagnostic delays, genetic heterogeneity, and the need for early multidisciplinary care to improve outcomes in CMDs.