Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China.
Tremor Other Hyperkinet Mov (N Y). 2024 Oct 1;14:50. doi: 10.5334/tohm.932. eCollection 2024.
Postural tremor is an uncommon and often overlooked phenotype in skeletal myopathy, which may lead to diagnostic delays.
A 21-year-old man presented with adolescent onset postural hand tremor as the initial symptom, followed by mild limb muscle weakness. Neurological examination showed restricted ocular motility without diplopia and myopathic facial appearance. A muscle biopsy showed a decrease in type 2A fibers. Whole-exome sequencing identified two novel compound heterozygous variants in gene (NM_017534.6): c.505+2T>C and c.3565 del C. The diagnosis was further validated via bioinformatics analysis and confirmed through familial co-segregation by Sanger sequencing.
This report expands the mutational and phenotypic spectrum of -associated myopathy. We suggest that in the differential diagnosis of tremor, besides common neurogenic causes, myogenic etiology should also be considered.
Hand tremor in this case expands the phenotype of MYH2-associated myopathy, enhancing our understanding of tremor origins. It underscores the importance of nuanced clinical assessment and genetic screening in complex tremor disorders.
姿势性震颤在骨骼肌病中较为少见且常被忽视，可能导致诊断延迟。
一名 21 岁男性以青少年起病的姿势性手部震颤为首发症状，随后出现轻度肢体肌无力。神经系统检查显示眼球运动受限，无双视，无肌病面容。肌肉活检显示 2A 型纤维减少。外显子组测序在 基因（NM_017534.6）中发现两个新的复合杂合变异：c.505+2T>C 和 c.3565delC。通过生物信息学分析进一步验证诊断，并通过 Sanger 测序确认家系共分离。
本报告扩展了 - 相关肌病的突变和表型谱。我们建议在震颤的鉴别诊断中，除了常见的神经源性原因外，还应考虑肌源性病因。
本例中的手部震颤扩展了 MYH2 相关肌病的表型，加深了我们对震颤起源的理解。它强调了在复杂震颤障碍中精细临床评估和基因筛查的重要性。
