Aoki T, Sugiura Y, Sugiyama Y, Ogata M, Hida C, Honma M, Yamamoto T
Department of Neurology, Fukushima Medical University School of Medicine.
Rinsho Shinkeigaku. 2000 Apr;40(4):358-63.
We report a 34-year-old man with evident family history of paralysis and myotonia. He has noticed episodic morning paralysis alternating with muscle myotonia since the age of 10 years. When an episode of paralysis occurred, his serum potassium level decreased to 2.3 mEq/L and tended to increase to about 4.0 mEq/L when he complained myotonia. This case is obviously different from several already-known diseases, as it is perhaps the first case thermo-sensitive disorder of muscle activity in that the myotonia is induced by warm environment but paralysis occurs in the setting of cold ambient temperature and hypokalemia. Therefore, we are underway to perform molecular genetic analysis of ion channels since paramyotonia/hyperkalemic periodic paralysis is known to be associated with Na(+)-channel missense mutations, while hypokalemic periodic paralysis is with Ca(++)-channel. Addendum: After submission of the manuscript, we identified a novel mutation in Na+ channel alpha subunit. The detail of molecular aspect will be reported elsewhere.
我们报告了一名34岁男性，其有明显的瘫痪和肌强直家族病史。自10岁起，他就注意到晨起发作性瘫痪与肌肉肌强直交替出现。当出现瘫痪发作时，他的血清钾水平降至2.3 mEq/L，而当他诉说肌强直时，血清钾水平往往会升至约4.0 mEq/L。该病例明显不同于几种已知疾病，因为它可能是首例肌肉活动热敏性疾病，其肌强直由温暖环境诱发，而瘫痪则发生在寒冷环境和低钾血症的情况下。因此，鉴于已知副肌强直/高钾性周期性瘫痪与Na(+)-通道错义突变有关，而低钾性周期性瘫痪与Ca(++)-通道有关，我们正在对离子通道进行分子遗传学分析。补充说明：在提交稿件后，我们在Na+通道α亚基中发现了一个新的突变。分子方面的详细情况将在其他地方报道。
