Recent Advances in Clinical and Genetic Diagnosis of Hereditary Motor Neuropathy

doi:2019.21.2.43

J Electrodiagn Neuromuscul Dis > Volume 21(2); 2019 > Article

Review Article

J Korean Assoc EMG Electrodiagn Med 2019;21(2):43-53.
DOI: https://doi.org/10.18214/jkaem.2019.21.2.43 Published online December 31, 2019.

Recent Advances in Clinical and Genetic Diagnosis of Hereditary Motor Neuropathy

Received: 25 March 2019 • Revised: 10 June 2019 • Accepted: 11 August 2019

Abstract

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.

Key Words: distal hereditary motor neuropathy, diagnosis, gene, subtype