Partanen Juhani, Isohanni Pirjo, Auranen Mari
Duodecim. 2016;132(19):1810-4.
Ion channel dysfunctions of the muscular cell membrane are usually inheritable, rare diseases. They may become manifest as relatively mild symptoms of muscle stiffness and pain, myotonia or paralysis. We describe two young patients who had an inherited ion channel disease of the muscular cell membrane with mild symptoms. The first patient had a chloride channel dysfunction of the muscular cell membrane, the second one a sodium channel dysfunction. In electromyography findings typical of the respective ion channel disease were detected in both patients. Closer examination of the patients' myotonic sequences occurring in electromyography of the relaxed muscle revealed differences that already enable the evaluation of the type of ion channel disease.
肌细胞膜的离子通道功能障碍通常是遗传性的罕见疾病。它们可能表现为相对较轻的肌肉僵硬、疼痛、肌强直或麻痹症状。我们描述了两名患有遗传性肌细胞膜离子通道疾病且症状较轻的年轻患者。第一名患者存在肌细胞膜氯离子通道功能障碍,第二名患者存在钠离子通道功能障碍。在两名患者的肌电图检查中均检测到了各自离子通道疾病的典型表现。对放松肌肉肌电图中出现的患者肌强直序列进行更仔细检查后发现了差异,这些差异已能够用于评估离子通道疾病的类型。