Clinical Approach to Inherited Muscular Disorders

Park, Hyung Jun

Review article

Korean Journal of Neuromuscular Disorders 2016;8(1):1-9.

Hyung Jun Park

Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea

유전성근육질환의 임상적 접근

박형준

이화여자대학교 의과대학 목동병원 신경과

Abstract

Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous groups of genetic disorders characterized by skeletal muscle weakness. These genetic and phenotypic complexities of IMDs make it difficult to identify the causative genes by a classical diagnostic approach, using clinical, pathological and genetic analysis in sequential steps. The recent advance in next generation sequencing makes it possible to sequence many genes cost-effectively and rapidly and has improved the molecular diagnosis of IMDs. However, comprehensive analysis of clinical phenotype is still important and required to identify pathogenic variants among large genomic data including non-pathogenic variants and sequencing errors. In this article, we provide a comprehensive review that integrates clinical manifestations and diagnostic strategy.