From Genes to Gait: Childhood-Onset Charcot-Marie-Tooth Disease Type 2A: A Case Report

Ganavi Ramagopal, Lavanya Basava, Preveen S, Anjali .G K, Raj sudharsan R, Raj Prasad V
Author(s)
1Professor and HOD, Department of Pediatrics, Dhanalakshmi Srinivasan Medical College and Hospital,Perambalur, Tamil Nadu, India.2Postgraduate Student, Department of Pediatrics, Dhanalakshmi Srinivasan Medical College and Hospital,Perambalur, Tamil Nadu, India.3Assistant Surgeon, Department of Pediatrics, Government Headquarters Hospital, Kumbakonam, Thanjavur, Tamil Nadu, India.4CRMI Student, Department of Pediatrics, Dhanalakshmi Srinivasan Medical College and Hospital,Perambalur, Tamil Nadu, India.

Abstract

Background: Charcot–Marie–Tooth disease type 2A (CMT2A) is an inherited axonal neuropathy commonly associated with pathogenic variants in the MFN2 gene. Childhood-onset disease is often associated with early gait impairment and progressive distal weakness. Here we present a 7-year-old Indian boy with progressive lower-limb weakness, frequent falls, and steppage gait beginning at 3.5 years of age, clinically showing features of neuropathy and later Whole-exome sequencing identified a heterozygous pathogenic MFN2 variant, confirming autosomal-dominant CMT2A.Progressive childhood steppage gait associated with pescavusand distal areflexic weakness should prompt evaluation for hereditary neuropathy. Early electrophysiological and molecular confirmation facilitates timely multidisciplinary management and family counselling.

Keywords: Charcot–Marie–Tooth disease; CMT2A; MFN2; pediatric neuropathy; pescavus; steppage gait.

Outline