This retrospective study evaluated the phenotypic and genotypic features of 14 patients with McArdle disease attending the West of Scotland adult muscle clinic. Although all patients experienced exercise-induced cramps, exercise intolerance and hyperCKaemia, only 71% (n = 10) experienced the second wind phenomenon, rhabdomyolysis and/or myoglobinuria. We observed a high rate of fixed muscle weakness (50%; n = 7), coronary artery disease (36%; n = 5), and psychological comorbidity (50%; n = 7). Although 79% had symptom onset in the first decade of life, the mean age at presentation and at genetic diagnosis was 43.8 years and 47.7 years, respectively. 93% had at least one copy of the common PYGM pathogenic variant, c.148C > T, p.(Arg50*), with 50% (n = 7) of the cohort being homozygous. Our cohort highlights the phenotypic variability seen in McArdle disease and underscores the potential for late-onset presentations. It emphasises the need for improved awareness and recognition of this condition amongst neurologists, rheumatologists and general physicians. A history of exercise intolerance and second wind phenomenon may not always be volunteered by the patient, underscoring the need to ask specific questions in clinic to extrapolate the relevant symptoms in this patient cohort.

这项回顾性研究评估了在苏格兰西部成人肌肉诊所就诊的 14 名 McArdle 病患者的表型和基因型特征。尽管所有患者都经历了运动诱发的痉挛、运动不耐受和高血钾，但只有 71% ( n  = 10) 出现了二次风现象、横纹肌溶解和/或肌红蛋白尿。我们观察到固定肌无力 (50%; n  = 7)、冠状动脉疾病 (36%; n  = 5) 和心理合并症 (50%; n  = 7) 的发生率很高。尽管 79% 的患者在生命的前十年出现症状，但就诊和基因诊断的平均年龄分别为 43.8 岁和 47.7 岁。93% 的人至少拥有一份普通PYGM 的副本致病性变异，c.148C >  T，p.(Arg50*)，50% ( n  = 7) 的队列是纯合的。我们的队列强调了 McArdle 病中的表型变异性，并强调了迟发性表现的可能性。它强调需要提高神经病学家、风湿病学家和全科医生对这种情况的认识和认识。运动不耐受和二次风现象的病史可能并非总是由患者自愿提供，这强调需要在临床中提出具体问题以推断该患者队列中的相关症状。