Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: an atypical case

Charcot-Marie-Tooth (CMT) disease, a common inherited peripheral neuropathy, typically characterized with progressive motor and sensory polyneuropathy. It is clinically variable in its age of onset and level of severity. There are in excess of 75 genes attributed to CMT, amongst them is the Immunoglobulin-helicase- μ-binding protein 2 (IGHMBP2) gene. Pathogenic variants in IGHMBP2 is responsible for continuum between two extremes of phenotypes with fatal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1) [1], where most infants die before 1 year of age [2] at one end and axonal prog ressive motor and sensory neuropathy, CMT2S, of varying degree of severity at the other [3].

Source: Neuromuscular Disorders - October 5, 2018 Category: Neurology Authors: Richa Kulshrestha, Natalie Forrester, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, Martin Samuels Tags: Case report Source Type: research