Davies Nicholas P, Hanna Michael G
Curr Opin Neurol. 2003 Oct;16(5):559-68. doi: 10.1097/01.wco.0000093098.34793.09.
This review outlines recent advances in clinical, genetic and molecular aspects of skeletal muscle channelopathies.
A new molecular genetic classification of skeletal muscle channelopathies has now emerged. This genetic classification complements previous clinical classifications. It is evident that there is considerable phenotypic diversity associated with dysfunction of a given muscle ion channel. Treatment response is likely to be related to genotype. DNA-based diagnosis is now achievable in most patients.
Ion channel dysfunction is now known to be the basis for familial variants of common neurological diseases such as migraine and epilepsy. Such discoveries were made possible through earlier work on the skeletal muscle channelopathies which remain the best understood example of all channelopathies. Classification of muscle channelopathies initially relied upon their specific clinical and neurophysiological features. This classification remains useful, but recent advances have led to a new system of classification based on the underlying molecular genetic defect. Recent advances have highlighted the broad phenotypic spectrum of muscle channelopathies and remarkable genetic heterogeneity is now recognized. DNA-based diagnosis is now available and should be achieved in all patients. Accurate genetic diagnosis is of major importance for accurate prognosis, for genetic counselling and has implications for therapeutics.
本综述概述了骨骼肌离子通道病在临床、遗传和分子方面的最新进展。
目前已出现骨骼肌离子通道病的一种新的分子遗传学分类。这种遗传分类补充了先前的临床分类。显然，特定肌肉离子通道功能障碍存在相当大的表型多样性。治疗反应可能与基因型有关。现在大多数患者都可以实现基于DNA的诊断。
现在已知离子通道功能障碍是偏头痛和癫痫等常见神经系统疾病家族性变异的基础。这些发现得益于早期对骨骼肌离子通道病的研究，骨骼肌离子通道病仍是所有离子通道病中了解最深入的例子。肌肉离子通道病的分类最初依赖于其特定的临床和神经生理学特征。这种分类仍然有用，但最近的进展导致了一种基于潜在分子遗传缺陷的新分类系统。最近的进展突出了肌肉离子通道病广泛的表型谱，现在已认识到显著的遗传异质性。现在已有基于DNA的诊断方法，所有患者都应进行。准确的基因诊断对于准确的预后、遗传咨询以及治疗都至关重要。
