Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre |
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| Authors: | Kun Huang Hui&#x;Qian Duan Qiu&#x;Xiang Li Yue&#x;Bei Luo Fang&#x;Fang Bi Huan Yang |
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| Institution: | 1. Department of Neurology, Xiangya Hospital, Central South University, Changsha China ; 2. National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha China ; 3. Institute of Molecular Precision Medicine and Hunan Key Laboratory of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha China |
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| Abstract: | Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were enrolled who exhibited initial symptoms. Physical examinations revealed that all patients exhibited muscle weakness. Muscle biopsies demonstrated multiple myopathological changes, including increased fibre size variation, myofibrillar network disarray, necrosis, myofiber grouping, regeneration, fibre atrophy and angular fibres. Genetic testing revealed six different mutated genes, including AGRN (2/9), CHRNE (1/9), GFPT1 (1/9), GMPPB (1/9), PLEC (3/9) and SCN4A (1/9). In addition, patients exhibited differential responses to pharmacological treatment. Prompt utilization of genetic testing will identify novel variants and expand our understanding of the phenotype of this rare syndrome. Our findings contribute to the clinical, pathohistological and genetic spectrum of congenital myasthenic syndrome in China. |
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| Keywords: | congenital myasthenic syndrome myopathy neuromuscular disorder pathology |
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