Malicdan May Christine V, Nonaka Ikuya
Department of Neuromuscular Research, National Institutes of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.
Neurol India. 2008 Jul-Sep;56(3):314-24. doi: 10.4103/0028-3886.43450.
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies. The identification of few causative genes made the broad classification of these diseases under "distal myopathies" disputable and added some enigma to why distal muscles are preferentially affected. Nevertheless, with the clarification of the molecular basis of specific conditions, additional clues have been uncovered to understand the mechanism of each condition. This review will give a synopsis of the common distal myopathies, presenting salient facts regarding the clinical, pathological, and molecular aspects of each disease. Distal myopathy with rimmed vacuoles, or Nonaka myopathy, will be discussed in more detail.
远端肌病是一组异质性疾病，由于其表现为累及远端骨骼肌的肌无力而被归为一大类。近年来，人们越来越努力地去确定远端肌病的致病基因。少数致病基因的确定使得将这些疾病宽泛地归类为“远端肌病”存在争议，也为远端肌肉为何优先受累增添了一些谜团。然而，随着特定疾病分子基础的阐明，已发现了更多线索来理解每种疾病的发病机制。本综述将概述常见的远端肌病，介绍每种疾病在临床、病理和分子方面的显著特征。伴有镶边空泡的远端肌病，即野中肌病，将进行更详细的讨论。
