Lehmann-Horn F, Jurkat-Rott K, Rüdel R
Institute of Applied Physiology, Ulm University, Ulm, Germany.
Acta Myol. 2008 Dec;27(3):98-113.
This article is dedicated to our teacher, Prof. Erich Kuhn, Heidelberg, on the occasion of his 88th birthday on 23rd November 2008. In contrast to muscular dystrophies, the muscle channelopathies, a group of diseases characterised by impaired muscle excitation or excitation-contraction coupling, can fairly well be treated with a whole series of pharmacological drugs. However, for a proper treatment proper diagnostics are essential. This article lists state-of-the-art diagnostics and therapies for the two types of myotonic dystrophies, for recessive and dominant myotonia congenita, for the sodium channel myotonias, for the primary dyskalemic periodic paralyses, for central core disease and for malignant hyperthermia susceptibility in detail. In addition, for each disorder a short summary of aetiology, symptomatology, and pathogenesis is provided.
谨以此文献给我们的老师,海德堡的埃里希·库恩教授,以庆祝他于2008年11月23日迎来88岁生日。与肌肉营养不良症不同,肌肉离子通道病是一组以肌肉兴奋或兴奋 - 收缩偶联受损为特征的疾病,可用一系列药物进行较好的治疗。然而,要进行恰当的治疗,准确的诊断至关重要。本文详细列出了两种类型的强直性肌营养不良症、隐性和显性先天性肌强直、钠通道性肌强直、原发性低钾性周期性麻痹、中央轴空病以及恶性高热易感性的最新诊断方法和治疗手段。此外,还针对每种疾病提供了病因、症状和发病机制的简要概述。