言语诱导的动作肌阵鸣可能是全身性肌阵鸣综合征的组成部分。然而,它也可能孤立地存在,或者缺乏其他发现,并且在诊断上具有挑战性。
报告一系列限制性言语诱发动作肌阵挛症的回顾性病例。
我们回顾了1989年至2020年在梅奥诊所罗切斯特评估的言语诱发的动作肌阵挛症病例。我们消除了也存在更广泛的肌阵挛性障碍的病例。临床,成像,并提取电生理数据。
确定了4例,其中语音引起的颅面肌肌阵挛性肌阵鸣是主要的临床表现。所有描述了说话引起的颅肌抽搐,还有两个病例报告了言语中断。在所有病例中,诊断均由专家语音病理学家确认。诊断辅助工具包括调制不同的语音任务和说话率,和表面电生理证实由说话任务引起的颅面肌阵鸣(3例)。以前的误诊包括功能性,肌张力障碍,神经肌肉接头病理学,或者面肌痉挛.两例孤立的言语诱发肌阵挛症,另外两个有上肢震颤。在三例病例中确定了潜在的病因-药物(2),癫痫(1)-在一名患者中,没有确定原因。一名患者通过抗肌阵挛性药物和言语治疗部分改善。
言语诱发的动作肌阵挛症可单独发生,常被误诊。诊断辅助工具包括调制不同的语音任务和说话率,和表面电生理学。
Speech-induced action myoclonus may occur as a component of a generalized myoclonus syndrome. However, it may also present in isolation, or with a paucity of other findings, and be diagnostically challenging.
To report a retrospective case series of restricted speech-induced action myoclonus.
We reviewed cases of speech-induced action myoclonus evaluated at Mayo Clinic Rochester from 1989 to 2020. We eliminated cases where a more generalized myoclonic disorder was also present. Clinical, imaging, and electrophysiologic data were extracted.
Four cases were identified in which speech-induced action myoclonus of craniofacial muscles was the predominant clinical presentation. All described cranial muscle twitching induced by speaking, and two cases also reported speech interruptions. Diagnosis was confirmed by expert speech pathologists in all cases. Diagnostic aids included modulation with different speech tasks and speaking rates, and surface electrophysiology which confirmed craniofacial myoclonus induced by speaking tasks (three cases). Previous misdiagnosis included functional, dystonic, neuromuscular junction pathology, or hemifacial spasm. Two cases had isolated speech-induced myoclonus, and the other two had coexistent upper limb tremor. Potential etiologic factors were identified in three cases - medication (2), epilepsy (1) - while in one patient no cause was identified. One patient partially improved with anti-myoclonic medication and speech therapy.
Speech-induced action myoclonus may occur in isolation and is frequently misdiagnosed. Diagnostic aids include modulation with different speech tasks and speaking rates, and surface electrophysiology.