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KMID : 0860920190210020043
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2019 Volume.21 No. 2 p.43 ~ p.53
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Recent Advances in Clinical and Genetic Diagnosis of Hereditary Motor Neuropathy
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Nam Soo-Hyun
Choi Byung-Ok
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Abstract
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Distal hereditary motor neuropathy (dHMN) is one of the most common hereditary neuropathies characterized by genetic and clinical heterogeneity. Various genetic causes have been identified and are classified into several subtypes. The dHMN types 1, 2, 5, 7, 8 and 9 are generally autosomal dominant, while dHMN types 3, 4 and 6 have recessive inheritance. Most chromosomal loci of the dHMN subtype are known, and several causative genes including HSPB8 , HSPB1 , HSPB3 , GARS , IGHMBP2 , SCL5A7 and DCTN1 have been identified. They may also show different phenotypes depending on each subtype. Therefore, it is important to have a clear understanding of the genetic cause and the characteristics of each patient for diagnosis and tailored treatment. In this review, we introduce the latest classification of dHMN and describe its characteristics to help understand diseases, and establish new therapeutic strategies in the future.
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KEYWORD
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distal hereditary motor neuropathy, diagnosis, gene, subtype
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