Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, Kansas, 66160, USA.
Sorbonne-Université, INSERM, AP-HP, Reference Center for Channelopathies, Department of Neuology, University Hospital Pitié-Salpêtrière, Paris, France.
Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29.
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.
周期性瘫痪（PPs）是一种罕见的神经肌肉疾病，由骨骼肌钠、钙和钾通道基因突变引起。PPs 包括低钾性瘫痪、高钾性瘫痪和 Andersen-Tawil 综合征。PP 的常见特征包括常染色体显性遗传、通常在第一或第二个十年发病、发作性弛缓性无力、常由饮食或运动后休息引起。诊断基于特征性临床表现，然后通过基因检测确认。在未发现明确基因突变的情况下，发作期间低钾或高钾血症或长时间运动试验的递减可支持诊断。治疗方法应包括急性发作的管理和发作的预防。治疗包括针对避免诱因的行为干预、钾水平的调节、利尿剂和碳酸酐酶抑制剂。肌肉神经 57：522-530，2018。
