PDF(Pubmed)
Abstract：
Geniospasm is a rare genetic disorder characterized by paroxysmal rhythmic or irregular movements of the chin and lower lip due to repetitive contractions of the mentalis muscle. Pathophysiology is poorly understood, and optimal treatment has not been established.
Geniospasm was characterized in a series of patients after evaluation in our clinics, and a comprehensive review of all cases in the medical literature was performed.
We evaluated four patients (1 female) in four families with geniospasm, aged 4 months to 9 years. Bothersome symptoms were present in one patient, who was treated with regular injections of onabotulinumtoxinA, with complete resolution of symptoms and no adverse effects. 9 patients in the literature have had similar outcomes.
Limited data exist with regard to the effective treatment of geniospasm. Several treatments have been used historically, with variable outcomes. Our results, together with those of prior reported cases, demonstrate benefit of the use of botulinum toxin injections for management of this condition.
Geniospasm was characterized in a series of patients after evaluation in our clinics, and a comprehensive review of all cases in the medical literature was performed.
We evaluated four patients (1 female) in four families with geniospasm, aged 4 months to 9 years. Bothersome symptoms were present in one patient, who was treated with regular injections of onabotulinumtoxinA, with complete resolution of symptoms and no adverse effects. 9 patients in the literature have had similar outcomes.
Limited data exist with regard to the effective treatment of geniospasm. Several treatments have been used historically, with variable outcomes. Our results, together with those of prior reported cases, demonstrate benefit of the use of botulinum toxin injections for management of this condition.
摘要：
基因痉挛是一种罕见的遗传性疾病，其特征是由于下巴肌肉的重复性收缩引起的下巴和下唇的阵发性节律或不规则运动。病理生理学知之甚少，最佳治疗方法尚未确定。
在我们的诊所进行评估后，在一系列患者中发现了基因痉挛，并对医学文献中的所有病例进行了全面审查。
我们评估了四个患有基因痉挛的家庭中的四名患者（一名女性），4个月至9岁。一名患者出现了令人讨厌的症状，他接受了定期注射乙酰磺胺醇毒素A的治疗，症状完全缓解，无不良反应。文献中的9例患者具有相似的结果。
关于基因痉挛的有效治疗的数据有限。历史上已经使用了几种治疗方法，结果可变。我们的结果,加上以前报告的病例，证明使用肉毒杆菌毒素注射治疗这种疾病的益处。
在我们的诊所进行评估后，在一系列患者中发现了基因痉挛，并对医学文献中的所有病例进行了全面审查。
我们评估了四个患有基因痉挛的家庭中的四名患者（一名女性），4个月至9岁。一名患者出现了令人讨厌的症状，他接受了定期注射乙酰磺胺醇毒素A的治疗，症状完全缓解，无不良反应。文献中的9例患者具有相似的结果。
关于基因痉挛的有效治疗的数据有限。历史上已经使用了几种治疗方法，结果可变。我们的结果,加上以前报告的病例，证明使用肉毒杆菌毒素注射治疗这种疾病的益处。
