Abstract：
Malignant hyperthermia is a life-threatening disorder, which can be prevented by avoiding certain anesthetic agents. Pathogenic variants in the skeletal muscle ryanodine receptor 1-gene are linked to malignant hyperthermia. We retrospectively studied 15 patients who presented to our clinic with symptoms of muscle dysfunction (weakness, myalgia or cramps) and were later found to have a variant in the skeletal muscle ryanodine receptor 1-gene. Symptoms, creatine kinase levels, electromyography, muscle biopsy and in vitro contracture test results were reviewed. Six out of the eleven patients, with a variant of unknown significance in the skeletal muscle ryanodine receptor 1-gene, had a positive in vitro contracture test, indicating malignant hyperthermia susceptibility. In one patient, with two variants of unknown significance, both variants were required to express the malignant hyperthermia-susceptibility trait. Neurologists should consider screening the skeletal muscle ryanodine receptor 1-gene in patients with myalgia or cramps, even when few to no abnormalities on ancillary testing.
摘要：
恶性高热是一种危及生命的疾病，这可以通过避免某些麻醉剂来预防。骨骼肌ryanodine受体1基因的致病变异与恶性高热有关。我们回顾性研究了15例出现肌肉功能障碍症状（无力，肌痛或痉挛），后来发现骨骼肌ryanodine受体1基因有变异。症状,肌酸激酶水平，肌电图,肌肉活检和体外挛缩试验结果进行了回顾。11个病人中有6个,在骨骼肌ryanodine受体1基因中具有未知意义的变异，体外挛缩试验呈阳性，表明恶性高热易感性。在一个病人中,有两个未知意义的变体，两种变异体都需要表达恶性高热易感特征.神经学家应考虑筛查肌痛或痉挛患者的骨骼肌ryanodine受体1基因，即使在辅助测试上很少到没有异常。
