Thomas C, Scwheitzer R, Isch F, Collin H, Fardeau M
Rev Neurol (Paris). 1978 Jan;134(1):45-58.
A family presenting a hyperkalemic form of periodic paralysis was studied through six generations; 31 individuals were affected, 14 could be examined. Periods of diffuse or localized muscle weakness, lasting one to four days, were associated with the classic adynamic attacks. Myotonic symptoms were discrete. Some patients, in particular the hard manual workers, exhibited a permanent proximal deficiency. Serum potassium level was in the lower normal range but raised during the attacks. EMG showed a polymorphic pattern, suggesting a functional neuro-muscular block. The histological and ultrastructural changes were pleiomorphic: vacuoles, tubular aggregates and fibers were found in a patient with permanent weakness; a pure type II fibre atrophy was noticed in another patient, without any weakness between the attakcs. Acetazolamide treatment gave good results in four cases out of seven.
对一个患有高钾型周期性麻痹的家族进行了六代研究；31人患病，14人接受了检查。持续一至四天的弥漫性或局限性肌肉无力期与典型的肌无力发作相关。肌强直症状不明显。一些患者，尤其是从事体力劳动的患者，表现出永久性近端肌无力。血清钾水平在正常范围下限，但在发作期间升高。肌电图显示多形性模式，提示功能性神经肌肉阻滞。组织学和超微结构变化具有多形性：在一名永久性肌无力患者中发现了空泡、管状聚集物和纤维；在另一名患者中发现了单纯的II型纤维萎缩，发作间期无任何肌无力症状。七例患者中有四例使用乙酰唑胺治疗效果良好。
