喉 dystonia: 现象学,遗传学和管理
Andrew Blitzer1, Nikita Kohli2
1Department of Otolaryngology - Head and Neck Surgery, Columbia University College of Physicians and Surgeons, USA; Icahn School of Medicine at Mount Sinai, USA; New York Center for Voice and Swallowing Disorders, USA.
概括
毒素注射显著改善了患有喉 dystonia 的患者的症状,这是一个罕见的声运动障碍. 这种治疗提供了超过70%的功能改善,为这种具有挑战性的疾病提供了缓解.
科学领域:
- 神经学 神经学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 遗传学 是一个遗传学.
背景情况:
- 喉 dystonia 是一种特定任务的运动障碍,影响声肌肉.
- 毒素A首次用于治疗这种疾病是在1984年.
- 这是一种罕见的疾病,每10万个人的发病率约为35.1.
研究的目的:
- 总结1400多名被诊断患有喉 dystonia 的患者的临床和内镜发现.
- 审查喉 dystonia 的治疗结果.
- 探索这种运动障碍的潜在遗传学.
主要方法:
- 对1400多名患者的临床和内镜检测结果的综述.
- 分析使用土毒素A的治疗结果.
- 与喉 dystonia 相关的遗传因素的总结.
主要成果:
- 82%的患者患有添加体型,17%患有吸收体型的喉 dystonia.
- 吸收器 dystonia 用甲状腺注射治疗;吸收器 dystonia 用后部 cricoarytenoid 注射治疗.
- 所有患者在功能性结局方面都取得了70%以上的改善.
结论:
- 毒素是一种高度有效的治疗喉 dystonia 症状.
- 虽然不是一种治疗方法,但毒素可以显著改善功能.
- 进一步研究喉 dystonia 的遗传学是有必要的.
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