Analyzing clinical and genetic aspects of axonal Charcot-Marie-Tooth disease

• Published in: Journal of genetic medicine Vol. 18; no. 2; pp. 83 - 93
• Main Authors: Kwon, Hye Mi, Choi, Byung-Ok
• Format: Journal Article
• Language: Korean
• Published: The Korean Society of Medical Genetics 31.12.2021; 대한의학유전학회
• Subjects: Mutation; Diagnosis; Gene; Charcot-Marie-Tooth disease; Classification
• ISSN: 1226-1769; 2233-9108

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.