PDF(Pubmed)
Abstract：
OBJECTIVE: Primary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S. HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle weakness (PW), and mixed weakness (MW) with both periodic and permanent weakness. Little is known about the natural history of HypoPP.
METHODS: In this 3-year follow-up study, we used the MRC scale for manual muscle strength testing and whole-body muscle MRI (Mercuri score) to assess disease progression in individuals with HypoPP-causing mutations in CACNA1S.
RESULTS: We included 25 men (mean age 43 years, range 18-76 years) and 12 women (mean age 42 years, range 18-76 years). Two participants were asymptomatic, 21 had PP, 12 MW, and two PW. The median number of months between baseline and follow-up was 42 (range 26-52). Muscle strength declined in 11 patients during follow-up. Four of the patients with a decline in muscle strength had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis. Fat replacement of muscles increased in 27 patients during follow-up. Eight of the patients with increased fat replacement had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis.
CONCLUSIONS: The study demonstrates that HypoPP can be a progressive myopathy in both patients with and without attacks of paralysis.
METHODS: In this 3-year follow-up study, we used the MRC scale for manual muscle strength testing and whole-body muscle MRI (Mercuri score) to assess disease progression in individuals with HypoPP-causing mutations in CACNA1S.
RESULTS: We included 25 men (mean age 43 years, range 18-76 years) and 12 women (mean age 42 years, range 18-76 years). Two participants were asymptomatic, 21 had PP, 12 MW, and two PW. The median number of months between baseline and follow-up was 42 (range 26-52). Muscle strength declined in 11 patients during follow-up. Four of the patients with a decline in muscle strength had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis. Fat replacement of muscles increased in 27 patients during follow-up. Eight of the patients with increased fat replacement had no attacks of paralysis during follow-up, and two of these patients had never had attacks of paralysis.
CONCLUSIONS: The study demonstrates that HypoPP can be a progressive myopathy in both patients with and without attacks of paralysis.
摘要：
目的：原发性低钾性周期性麻痹（HypoPP）是一种遗传性信道病，最常由CACNA1S突变引起。HypoPP可以呈现不同的表型：周期性麻痹（PP），永久性肌肉无力（PW），以及具有周期性和永久性弱点的混合弱点（MW）。关于HypoPP的自然史知之甚少。
方法：在这项为期3年的随访研究中，我们使用MRC量表进行手动肌力测试和全身肌肉MRI(Mercuri评分),以评估在CACNA1S中存在引起HypoPP的突变的个体的疾病进展.
结果：我们包括25名男性（平均年龄43岁，范围18-76岁)和12名女性(平均年龄42岁，范围18-76年）。两名参与者无症状，21有PP，12MW,两个PW。基线和随访之间的中位月数为42（范围26-52）。随访期间11例患者肌肉力量下降。其中4名肌力下降的患者在随访期间没有出现瘫痪的发作,其中两名患者从未发生过瘫痪。27例患者在随访期间肌肉脂肪置换增加。8名脂肪替代增加的患者在随访期间没有出现瘫痪,其中两名患者从未发生过瘫痪。
结论：研究表明，无论是否有瘫痪发作，HypoPP都可能是一种进行性肌病。
方法：在这项为期3年的随访研究中，我们使用MRC量表进行手动肌力测试和全身肌肉MRI(Mercuri评分),以评估在CACNA1S中存在引起HypoPP的突变的个体的疾病进展.
结果：我们包括25名男性（平均年龄43岁，范围18-76岁)和12名女性(平均年龄42岁，范围18-76年）。两名参与者无症状，21有PP，12MW,两个PW。基线和随访之间的中位月数为42（范围26-52）。随访期间11例患者肌肉力量下降。其中4名肌力下降的患者在随访期间没有出现瘫痪的发作,其中两名患者从未发生过瘫痪。27例患者在随访期间肌肉脂肪置换增加。8名脂肪替代增加的患者在随访期间没有出现瘫痪,其中两名患者从未发生过瘫痪。
结论：研究表明，无论是否有瘫痪发作，HypoPP都可能是一种进行性肌病。
