Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case
Glycogen storage disease type IIIa (GSD IIIa) is a rare etiology among patients with adult-onset myopathy, which is typically associated with axonopathy rather than demyelination. We report a genetically and pathologically confirmed case that exhibited prominent electrophysiological hallmarks of dem...
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| Format: | Article |
| Language: | English |
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De Gruyter
2025-04-01
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| Series: | Open Medicine |
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| Online Access: | https://doi.org/10.1515/med-2025-1172 |
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| author | Zhou Xiajun Zhong Xingxing Gao Mingshi Yue Dongyue Qiao Kai Wang Min Zhi Nan Cao Wenwei Han Lu Lu Jiahong Zhu Wenhua Zhao Chongbo Guan Yangtai |
| author_facet | Zhou Xiajun Zhong Xingxing Gao Mingshi Yue Dongyue Qiao Kai Wang Min Zhi Nan Cao Wenwei Han Lu Lu Jiahong Zhu Wenhua Zhao Chongbo Guan Yangtai |
| author_sort | Zhou Xiajun |
| collection | DOAJ |
| description | Glycogen storage disease type IIIa (GSD IIIa) is a rare etiology among patients with adult-onset myopathy, which is typically associated with axonopathy rather than demyelination. We report a genetically and pathologically confirmed case that exhibited prominent electrophysiological hallmarks of demyelination, including prolonged distal motor latency, temporal dispersion, prolonged F-waves, and conduction block. The presence of these diverse demyelinating characteristics in this context, excluding other factors, is infrequently reported, suggesting that glycogen accumulation may influence not only muscles but also potentially the myelin, thereby broadening our comprehension of this rare disease spectrum. |
| format | Article |
| id | doaj-art-47bb393114764ceab3bc1a9f9c3cbf67 |
| institution | Kabale University |
| issn | 2391-5463 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Open Medicine |
| spelling | doaj-art-47bb393114764ceab3bc1a9f9c3cbf672025-08-20T03:52:16ZengDe GruyterOpen Medicine2391-54632025-04-012014466310.1515/med-2025-1172Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa caseZhou Xiajun0Zhong Xingxing1Gao Mingshi2Yue Dongyue3Qiao Kai4Wang Min5Zhi Nan6Cao Wenwei7Han Lu8Lu Jiahong9Zhu Wenhua10Zhao Chongbo11Guan Yangtai12Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaDepartment of Neurology, Northern Jiangsu People’s Hospital Affiliated to Yangzhou University, Jiangsu, 225000, ChinaDepartment of Pathology, Huashan Hospital, Fudan University, Shanghai, 200040, ChinaDepartment of Neurology, Jing’an District Center Hospital, Shanghai, 200040, ChinaDepartment of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaDepartment of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, ChinaDepartment of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, ChinaDepartment of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, ChinaDepartment of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, ChinaGlycogen storage disease type IIIa (GSD IIIa) is a rare etiology among patients with adult-onset myopathy, which is typically associated with axonopathy rather than demyelination. We report a genetically and pathologically confirmed case that exhibited prominent electrophysiological hallmarks of demyelination, including prolonged distal motor latency, temporal dispersion, prolonged F-waves, and conduction block. The presence of these diverse demyelinating characteristics in this context, excluding other factors, is infrequently reported, suggesting that glycogen accumulation may influence not only muscles but also potentially the myelin, thereby broadening our comprehension of this rare disease spectrum.https://doi.org/10.1515/med-2025-1172glycogen storage disease type iiiglycogen debranching enzyme systemdemyelinating diseaseselectrophysiology |
| spellingShingle | Zhou Xiajun Zhong Xingxing Gao Mingshi Yue Dongyue Qiao Kai Wang Min Zhi Nan Cao Wenwei Han Lu Lu Jiahong Zhu Wenhua Zhao Chongbo Guan Yangtai Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case Open Medicine glycogen storage disease type iii glycogen debranching enzyme system demyelinating diseases electrophysiology |
| title | Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case |
| title_full | Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case |
| title_fullStr | Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case |
| title_full_unstemmed | Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case |
| title_short | Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case |
| title_sort | diverse electrophysiological demyelinating features in a late onset glycogen storage disease type iiia case |
| topic | glycogen storage disease type iii glycogen debranching enzyme system demyelinating diseases electrophysiology |
| url | https://doi.org/10.1515/med-2025-1172 |
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