Montagnese Federica, Schoser Benedikt
Friedrich-Baur-Institut, Neurologische Klinik, Ludwig Maximilian Universität München.
Fortschr Neurol Psychiatr. 2018 Sep;86(9):575-583. doi: 10.1055/a-0635-8285. Epub 2018 Sep 24.
Myotonic syndromes are rare neuromuscular diseases characterized by the clinical or neurophysiological detection of myotonia. The genetic defects involve primarily or secondarily the muscular isoforms of the ion channels. The channel dysfunction consecutively leads to a hyper-excitability of the muscle membrane and the clinical symptom myotonia. Two forms of dystrophic myotonic diseases are currently known: the myotonic dystrophy type 1 (DM1) and the myotonic dystrophy type 2 (DM2). They are multisystemic diseases clinically characterized by a combination of myotonia and other muscular symptoms (muscle weakness, wasting and myalgia) together with the involvement of other organs and systems (cataract, diabetes, heart diseases, hormone dysfunctions). The non-dystrophic myotonic diseases are caused by mutations affecting either the chloride ion channels or the sodium ion channels. The clinical picture is dominated by the presence of myotonia and other minor muscular complaints as mild episodic weakness and muscle hypertrophy. The differential diagnosis among the myotonic syndromes is extremely challenging leading to a significant diagnostic delay. This review will update on the main clinical, diagnostic and therapeutic aspects of myotonic syndromes to guide general neurologists through an earlier diagnosis and better management.
强直性肌病是罕见的神经肌肉疾病，其特征是临床上或神经生理学上检测到肌强直。基因缺陷主要或次要涉及离子通道的肌肉异构体。通道功能障碍继而导致肌肉膜的过度兴奋性和临床症状肌强直。目前已知两种形式的营养不良性强直性肌病：强直性肌营养不良1型（DM1）和强直性肌营养不良2型（DM2）。它们是多系统疾病，临床上的特征是肌强直与其他肌肉症状（肌肉无力、萎缩和肌痛）相结合，同时累及其他器官和系统（白内障、糖尿病、心脏病、激素功能障碍）。非营养不良性强直性肌病由影响氯离子通道或钠离子通道的突变引起。临床表现以肌强直和其他轻微的肌肉症状为主，如轻度发作性无力和肌肉肥大。强直性肌病之间的鉴别诊断极具挑战性，导致诊断显著延迟。本综述将更新强直性肌病的主要临床、诊断和治疗方面，以指导普通神经科医生进行早期诊断和更好的管理。
