Article
Charcot-Marie-Tooth disease: an overview of genotypes, phenotypes, and clinical management strategies.
PM & R : the journal of injury, function, and rehabilitation - 1 Apr 2014
El-Abassi Rima, England John D, Carter Gregory T
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuromuscular disorders. Our understanding of the molecular genotypes of CMT and the resultant clinical and electrophysiological phenotypes has increased greatly in the past decade. Characterized by electrodiagnostic studies into demyelinating (type 1) and axonal (type 2) forms,...
Topics
- Charcot-Marie-Tooth Disease
- Genotype
- Humans
- Phenotype
- Quality of Life