Serratrice G, Desnuelle C
Sem Hop. 1982 Apr 8;58(14):841-8.
Case-reports of eleven patients diagnosed either as Eulenburg paramyotonia or Gamstorp adynamia episodica hereditaria are reviewed. The connections between both conditions are discussed. The clinical pictures are similar, with predominance of either paramyotonia or adynamia. In both conditions, hyperkaliemia is present and potassium loading may be followed by clinical exacerbation. Electromyographic and histological findings are comparable. Paramyotonia and adynamia probably result from the same physiopathological mechanism : hyperkaliemia modifies the cell membrane permeability to sodium and potassium, leading to depolarization with initial hyperexcitability and subsequent inexcitability. We believe that Eulenburg paramyotonia and Gamstorp adynamia episodica hereditaria are two manifestations of the same condition which could be termed familial periodic paralysis with paramyotonia and hyperkaliemia.
本文回顾了11例被诊断为欧伦堡型发作性肌强直或甘斯托普型遗传性发作性肌无力的患者的病例报告。讨论了这两种病症之间的联系。两者的临床表现相似,以发作性肌强直或肌无力为主。在这两种病症中,均存在高钾血症,补钾后临床症状可能会加重。肌电图和组织学检查结果具有可比性。发作性肌强直和肌无力可能由相同的生理病理机制引起:高钾血症改变细胞膜对钠和钾的通透性,导致去极化,起初表现为兴奋性增高,随后则为兴奋性丧失。我们认为,欧伦堡型发作性肌强直和甘斯托普型遗传性发作性肌无力是同一种病症的两种表现形式,可称为伴有发作性肌强直和高钾血症的家族性周期性麻痹。