Fontaine Bertrand
National Reference Center for Muscle Channelopathies and Research Institute for Brain and Spinal Cord (UMR 975-7225, INSERM, CRNS and Pierre et Marie Curie University), Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Handb Clin Neurol. 2013;113:1433-6. doi: 10.1016/B978-0-444-59565-2.00012-5.
Muscle channelopathies and related disorders are neuromuscular disorders predominantly of genetic origin which are caused by mutations in ion channels or genes that play a role in muscle excitability. They include different forms of periodic paralysis which are characterized by acute and reversible attacks of muscle weakness concomitant to changes in blood potassium levels. These disorders may also present as distinguishable myotonic syndromes (slowed muscle relaxation) which have in common lack of involvement of dystrophic changes of the muscle, in contrast to dystrophia myotonica. Recent advances have been made in the diagnosis of these different disorders, which require, in addition to a careful clinical evaluation, detailed EMG and molecular study. Although these diseases are rare, they deserve attention since patients may benefit from drugs which can dramatically improve their condition. Patients may have atypical presentations, sometimes life-threatening, which may delay a proper diagnosis, mostly in the first months of life. The creation of specialized reference centers in the Western world has greatly benefited the proper recognition of these neuromuscular diseases.
肌肉离子通道病及相关疾病是主要由遗传因素引起的神经肌肉疾病，由离子通道或在肌肉兴奋性中起作用的基因突变所致。它们包括不同形式的周期性瘫痪，其特征为急性且可逆的肌无力发作，并伴有血钾水平变化。这些疾病也可能表现为可区分的肌强直综合征（肌肉放松减慢），与强直性肌营养不良相反，其共同特点是不存在肌肉营养不良性改变。这些不同疾病的诊断取得了新进展，除了仔细的临床评估外，还需要详细的肌电图和分子研究。尽管这些疾病罕见，但值得关注，因为患者可能受益于能显著改善其病情的药物。患者可能有非典型表现，有时会危及生命，这可能会延迟正确诊断，大多发生在生命的最初几个月。西方世界专门参考中心的建立极大地有助于正确识别这些神经肌肉疾病。
