背景:基因痉挛是一种罕见的、一般良性的下巴运动障碍,但有潜在的衰弱性并发症。由于它的稀有性,以前的文献仅限于病例报告或系列,对其自然历史有重要的知识差距,预后,和管理。我们的目标是建立自然历史,预后,和治疗基因痉挛。
方法:通过PubMed和GoogleScholar的文献检索,对病例报告或系列进行了系统评价,从成立到2021年12月。评估报告的质量,排除在人口统计学以外的分析中的低质量文章。
结果:41篇文章被纳入人口统计学分析(n=489),40篇文章被纳入其他分析(n=451)。在我们的队列中,只有轻微的男性优势(男性:女性=1.2:1),98.6%有基因痉挛家族史,68.1%的人在1岁以下发病,91.4%的人有情绪触发的症状,25.7%的人在睡眠中出现基因痉挛,100%累及下颌肌肉,4.9%累及下颌附近的肌肉,55.2%有规律的阵发性发作(≥1/周,但在56.3%的病例中短暂),只有11.1%有并发症。阵发性随着年龄的增长而减少,但完全缓解仅发生在9.9%。女性(p=0.010)和睡眠中没有基因痉挛的女性(p=0.048)与疾病的良好预后相关。除常规肉毒杆菌毒素注射外,基因痉挛通常难以治疗。
结论:一般来说,基因痉挛随着年龄的增长而改善,但完全缓解很少。考虑到我们的审查局限性,我们的研究结果应谨慎解释.未来对更高证据水平的研究至关重要。
BACKGROUND: Geniospasm is a rare and generally benign movement disorder of the chin yet with potentially debilitating complications. Due to its rarity, previous literature was limited to only case reports or series with critical knowledge gap on its natural history, prognosis, and management. We aimed to establish the natural history, prognosis, and treatment for geniospasm.
METHODS: A systematic review on case reports or series was performed with literature search on PubMed and Google Scholar, from inception through December 2021. The quality of the reports was assessed with low-quality articles excluded for analyses other than demographics.
RESULTS: Forty-one articles were included for demographic analysis (n = 489) while forty articles for other analyses (n = 451). There was only slight male preponderance of this disease in our cohort (Male:Female = 1.2:1) with 98.6% having family history of geniospasm, 68.1% having onset below 1 year of age, 91.4% having emotional triggers of the symptoms, 25.7% having geniospasm in sleep, 100% involving mentalis muscles, 4.9% involving muscles adjacent to mentalis, 55.2% having regular paroxysms (≥1/week, but brief in 56.3% of the cases) and only 11.1% having complications. The paroxysms reduced with age, but complete remission only happened in 9.9%. Females (p = 0.010) and those without geniospasm in sleep (p = 0.048) were associated with good outcome of the disease. Geniospasm was usually refractory to treatment except for regular botulinum toxin injections.
CONCLUSIONS: Generally, geniospasm improved with age but complete remission was rare. Considering our review limitations, our findings should be interpreted with caution. Future studies of higher evidence level are crucial.