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

• 발행기관: 대한의학유전학회
• 저자명: Hye Mi Kwon Byung-Ok Choi
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 83~93쪽, 전체 11쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Charcot-Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usu-ally 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. There-fore, 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.

목차

Introduction

Charcot-Marie-Tooth Disease Type 2

Conclusion

Authors’ Contributions

References

키워드

Charcot-Marie-Tooth disease Classification Mutation Gene Diagnosis