Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case
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
Affiliations
Zhou Xiajun
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
Zhong Xingxing
Department of Neurology, Northern Jiangsu People’s Hospital Affiliated to Yangzhou University, Jiangsu, 225000, China
Gao Mingshi
Department of Pathology, Huashan Hospital, Fudan University, Shanghai, 200040, China
Yue Dongyue
Department of Neurology, Jing’an District Center Hospital, Shanghai, 200040, China
Qiao Kai
Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, China
Wang Min
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
Zhi Nan
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
Cao Wenwei
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
Han Lu
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
Lu Jiahong
Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, China
Zhu Wenhua
Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, China
Zhao Chongbo
Department of Neurology, and Huashan Rare Disease Center, Huashan Hospital, Fudan University, National Center for Neurological Disorders (NCND), Shanghai, 200040, China
Guan Yangtai
Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China
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.
