PERIPHERAL NEUROPATHY IN GLYCOGEN STORAGE DISEASE TYPE III: FACT OR MYTH?

被引：7

作者：

Herlin, Bastien ^{[1
]}

Laforet, Pascal ^{[1
]}

Labrune, Philippe ^{[2
,3
]}

Fournier, Emmanuel ^{[4
]}

Stojkovic, Tanya ^{[1
]}

机构：

[1] GH Pitie Salpetriere, AP HP, Ctr Reerence Malad Neuromusculaires Paris, Inst Myol, F-75013 Paris, France

[2] Hop Univ Paris Sud, Hop Antoine Beclere, AP HP, Ctr Reference Malad Hereditaires Metab Hepat,Serv, Clamart, France

[3] Univ Paris 11, UFR Le Kremlin Bicetre, Paris, France

[4] GH Pitie Salpetriere, AP HP, Dept Neurophysiol, Paris, France

来源：

MUSCLE & NERVE | 2016年 / 53卷 / 02期

关键词：

electromyography; glycogen storage disease; myopathy; nerve conduction study; peripheral neuropathy; DEBRANCHING ENZYME DEFICIENCY; MYOPATHY; INVOLVEMENT;

D O I：

10.1002/mus.24977

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: The aim of this study was to assess whether peripheral neuropathy is a feature of glycogen storage disease type IIIa (GSD IIIa) in adult patients. Methods: Medical records of a cohort of adult GSD IIIa patients who underwent electromyography (EMG) and nerve conduction studies (NCS) were reviewed, and the results were correlated with physical examination findings. Results: Sixteen patients underwent EMG and NCS; 4 complained of exercise intolerance, 1 of foot paresthesia, and 11 of muscle weakness (3 proximal, 8 distal). None of the patients had sensory deficits on clinical examination. All motor and sensory conduction velocities and sensory amplitudes were within reference ranges. EMG showed myopathic motor unit potentials in 15 of the 16 patients. Conclusions: Based on the clinical examination and the NCS and EMG results, we did not identify any peripheral nerve involvement in our adult patients diagnosed with GSD III.

引用

页码：310 / 312

页数：3

共 13 条

[1] GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) - CORRELATION OF BIOCHEMICAL DEFECTS WITH MYOPATHY AND CARDIOMYOPATHY [J].