Bissay Véronique, Van Malderen Sophie C H
a Department of Neurology , Center for Neurosciences, UZ Brussel, Vrije Universiteit Brussel (VUB) , Brussels , Belgium.
b Department of Cardiology , AZ Nikolaas , Sint-Niklaas , Belgium.
Acta Clin Belg. 2018 Feb;73(1):1-6. doi: 10.1080/17843286.2017.1396674. Epub 2017 Oct 31.
Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options.
Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist. This article provides clinical clues to better diagnose an tackle these unique disorders.
A increased knowledge will reduce the diagnostic delay, improve monitoring and treatment, and might even prevent potentially life-threatening conditions as seen in DM.
非萎缩性肌强直、周期性瘫痪以及在一定程度上的强直性肌营养不良症是罕见的遗传性骨骼肌离子通道病，其特征为肌强直或发作性肌无力。本综述重点介绍了诊断挑战和治疗选择。
其中一些罕见的骨骼肌疾病与广泛的全身性和非特异性肌肉症状相关。因此，患者在看神经科医生之前常常先被转诊至内科医生处。本文提供了临床线索，以更好地诊断和应对这些独特的疾病。
增加相关知识将减少诊断延误，改善监测和治疗，甚至可能预防强直性肌营养不良症中所见的潜在危及生命的情况。
