面肩肱型肌营养不良症的功能障碍风险。
Risk of functional impairment in Facioscapulohumeral muscular dystrophy.
机构信息
Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, New York, 14642-0669, USA.
出版信息
Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10.
INTRODUCTION
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies. Nevertheless, little is known about the risk of developing functional impairment. Here we determine the 6-year risk of functional impairment in FSHD.
METHODS
A retrospective cohort of 313 genetically confirmed, clinically affected FSHD participants in a United States registry between January 2002 and June 2011. Our main outcome was wheelchair (WC) use.
RESULTS
The 6-year risk of WC use was 24.0% (95% confidence interval 18.6-29.3). The distribution of WC risk was bimodal, with a peak in the second decade associated with large D4Z4 contractions, followed by an age-related increase in risk. Other functional categories showed moderate risk. Prevalence of hearing aid use and difficulty pronouncing words was increased in large D4Z4 contractions.
CONCLUSIONS
The 6-year risk of functional impairment in FSHD is moderate, and early WC use is associated with large D4Z4 contractions.
简介
面肩肱型肌营养不良症（FSHD）是最常见的肌肉营养不良症之一。然而，对于其发展为功能障碍的风险，我们知之甚少。本研究旨在确定 FSHD 患者 6 年内发生功能障碍的风险。
方法
本研究为在美国注册处 2002 年 1 月至 2011 年 6 月期间登记的 313 名基因确诊、临床表现受累的 FSHD 患者的回顾性队列研究。我们的主要结局是使用轮椅（WC）。
结果
6 年内使用 WC 的风险为 24.0%（95%置信区间 18.6-29.3）。WC 风险呈双峰分布，第一个十年与较大的 D4Z4 收缩相关，风险峰值较高，随后与年龄相关的风险增加。其他功能障碍类别也具有中度风险。大 D4Z4 收缩患者的助听器使用率和发音困难的发生率增加。
结论
FSHD 患者在 6 年内发生功能障碍的风险为中度，且早期使用 WC 与大 D4Z4 收缩相关。
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