Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

ABSTRACT: Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Development projects involved identification of a preliminary pool of 31 items representing the range of disability in affected patients aged 0-4 years from a systematic review of the literature, peer review by 12 expert clinicians and researchers in the field, design of a scoring alg

SUBMITTER: Mandarakas MR 

PROVIDER: S-EPMC6312041 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature