Commentary

[摘要] This case illustrates the extensive clinical and genetic heterogeneity in the hereditary motor and sensory neuropathies. There is no simple means for detecting these inherited neuromuscular disorders. An increased creatine kinase value should prompt further investigation, including repeat measurement after a period of rest. If creatine kinase remains increased and other causes are excluded, a thorough family history, a physical examination, and a neurologic evaluation are essential for establishing a clinical diagnosis of Charcot–Marie–Tooth disease (CMT). Molecular genetic testing provides a definitive diagnosis if …

[学科分类] 过敏症与临床免疫学