Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.
Genet Med. 2010 Jul;12(7):440-5. doi: 10.1097/GIM.0b013e3181cd735b.
Glycogen Storage Disease Type III, also known as debrancher deficiency or Cori disease, is an autosomal recessive disorder recognized for both its hepatic and muscle manifestations. The neuromuscular manifestations of Glycogen Storage Disease Type III are not well characterized. In this study, we attempt to better define the disorder.
The medical records of 40 patients with Glycogen Storage Disease Type III seen at Duke University during 1990-2009 were reviewed. The medical records of all patients with nerve conduction studies and/or electromyography were examined.
Twelve patients with Glycogen Storage Disease Type III (aged 5-55 years) had undergone nerve conduction studies +/- electromyography. Three of these cases are presented in detail. Nine patients had Glycogen Storage Disease Type IIIa, two patients had Glycogen Storage Disease Type IIIb, and the clinical subtype of one patient was unknown. All had nerve conduction studies and of those nerves tested, abnormalities in the median motor response were most common, corresponding to previously described, intrinsic hand muscle weakness. Electromyography was performed in eight patients and myopathic findings were present in six individuals. Abnormal electrodiagnostic findings were more common in older patients. The two patients with Glycogen Storage Disease Type IIIb had electrodiagnostic evidence of nerve involvement with minor myopathic findings.
The neuromuscular manifestations of Glycogen Storage Disease Type III include myopathy and neuropathy and are more likely to occur with increasing age, even in those diagnosed with Glycogen Storage Disease Type IIIb. Intrinsic hand muscle weakness is likely due to a combination of nerve and muscle dysfunction, a finding that may have implications for treatment.
糖原贮积病 III 型，又称支链脱支酶缺乏症或科里病，是一种常同时累及肝脏和肌肉的常染色体隐性遗传病。糖原贮积病 III 型的神经肌肉表现尚未得到充分描述。本研究旨在更好地阐明其神经肌肉表现。
对 1990 年至 2009 年期间在杜克大学就诊的 40 例糖原贮积病 III 型患者的病历进行了回顾性分析。对所有接受神经传导研究和/或肌电图检查的患者的病历进行了检查。
12 例糖原贮积病 III 型患者（年龄 5-55 岁）接受了神经传导研究 +/-肌电图检查。其中 3 例详细介绍如下。9 例为糖原贮积病 IIIa 型，2 例为糖原贮积病 IIIb 型，1 例患者的临床亚型不详。所有患者均接受了神经传导研究，其中正中神经运动反应异常最为常见，与先前描述的手部固有肌肉无力相对应。8 例患者进行了肌电图检查，其中 6 例存在肌病表现。随着年龄的增长，神经电生理异常更为常见。2 例糖原贮积病 IIIb 型患者存在神经电生理异常和轻微肌病表现。
糖原贮积病 III 型的神经肌肉表现包括肌病和神经病，且随着年龄的增长更易发生，即使在诊断为糖原贮积病 IIIb 型的患者中也是如此。手部固有肌肉无力可能是神经和肌肉功能障碍的共同结果，这一发现可能对治疗具有启示意义。
