Charcot Marie Tooth Disease Type 1 - Rare but Commonest Hereditary Neuropathy

Abstract

Objective: To present a case of Charcot Marie Tooth Disease. Backgrounds: A 22 years old boy presented with very slowly progressive symmetrical weakness of both lower limbs with distal muscular atrophy. He has a family member with similar problem. Methods: The patient was clinically examined and investigations done accordingly like Nerve Conduction Velocity studies (NCV). Results: The patient was diagnosed to be a case of Charcot Marie Tooth disease type 1 with classical features like” inverted Champagne bottle” like legs. Conclusion: Charcot Marie Tooth disease is rare and often undiagnosed yet it is the commonest hereditary neuropathy worldwide and India is not an exception