PDF(Pubmed)
Abstract：
Glycogen storage type V (GSD V-McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children affected by the disorder are uncommon (Lucia et al., 2021, Neuromuscul Disord, 31, 1296-1310). This paper presents eight patients with a median onset age of 5.5 years and diagnosis of 9.5 years. Six patients had episodes of rhabdomyolysis with creatine kinase elevations >50 000 IU/L. Most episodes occurred in relation to eccentric non-predicted activities rather than regular exercise. One of the patients performed a non-ischaemic forearm test. One patient was diagnosed subsequent to a skeletal muscle biopsy, and all had confirmatory molecular genetic diagnosis. Three were homozygous for the common PYGM:c.148C > T (p.Arg50*) variant. All but one patient had truncating variants. All patients were managed with structured exercise testing to help them identify \'second-wind\', and plan an exercise regimen. In addition all also had an exercise test with 25 g maltodextrin which had statistically significant effect on ameliorating ratings of perceived exertion. GSD V is under-recognised in paediatric practice. Genetic testing can readily diagnose the condition. Careful identification of second-wind symptomatology during exercise with the assistance of a multi-disciplinary team, allows children to manage activities and tolerate exercise. Maltodextrin can be used for structured exercise, but excessive utilisation may lead to weight gain. Early intervention and education may improve outcomes into adult life.
摘要：
糖原储存型V（GSDV-McArdle综合征）是一种罕见的神经肌肉疾病，其特征是在身体活动开始后早期出现严重疼痛。最近的一系列研究表明，诊断延迟了29年；因此，关于受该疾病影响的儿童的报道很少见（Lucia等人。,2021年，神经肌肉病，31，1296-1310）。本文介绍了8例患者，中位发病年龄为5.5岁，诊断为9.5岁。6例患者发生横纹肌溶解症，肌酸激酶升高>50000IU/L。大多数发作与偏心的非预测活动有关，而不是定期运动。其中一名患者进行了非缺血性前臂测试。一名患者在骨骼肌活检后被诊断出，并且都有确证的分子遗传学诊断。三个是普通PYGM的纯合子：c.148C>T（p。Arg50*）变体。除一名患者外，所有患者都有截短的变体。所有患者都接受了结构化运动测试，以帮助他们识别“第二风”，并计划锻炼方案。此外，所有人还进行了25g麦芽糖糊精的运动测试，这对改善感知的劳累程度具有统计学上的显着影响。GSDV在儿科实践中被低估。基因检测可以很容易地诊断病情。在多学科小组的协助下，在锻炼过程中仔细检查第二风症状，允许孩子管理活动和容忍运动。麦芽糊精可用于结构化运动，但是过度使用可能会导致体重增加。早期干预和教育可以改善成人生活的结果。
