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.
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。