Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth's Disease in Brazil.

ABSTRACT: Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36.1 ± 18.3 years. The mean age at onset was 6.1 ± 4.4 years. The most common initial complaint was bilateral pes cavus. The genetic basis included PMP22 duplication (CMT1A) ( n  = 18), GJB1 (CMTX1) ( n  = 5), MPZ (CMT

SUBMITTER: Machado RIL 

PROVIDER: S-EPMC10756728 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature