目的:评估早发性面肩周营养不良(FSHD)的长期自然病程,这对患者管理和试验准备很重要,目前缺乏。
方法:我们有独特的机会在22年的随访后评估10例早发性FSHD患者。患者接受了半结构化访谈,体格检查和额外的基因分型。
结果:纳入了9名初始研究参与者(中位年龄37岁),一名患者在首次发表后不久死亡。在第一次检查时,一名患者依赖轮椅,一名患者辅助行走,八名病人在没有帮助的情况下行走。22年后,四名患者依赖轮椅,三个人走路辅助,两个人无人行走。系统特征,包括听力损失(56%),智力残疾(44%),呼吸功能下降(56%),是频繁的。患者参与社会和经济活动,大多数患者住在普通房屋中(n=6)和/或从事有偿工作(n=4)。
结论:与经典发病FSHD相比,早发性FSHD患者通常具有严重的表型。然而,经过22年的随访,他们的严重程度差异很大,尽管有这些物理限制,参与社会和经济。这些观察结果对于患者管理很重要,应在临床试验中予以考虑。
OBJECTIVE: To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and is currently lacking.
METHODS: We had the unique opportunity to evaluate 10 patients with early-onset FSHD after 22 years follow-up. Patients underwent a semi-structured interview, physical examination and additional genotyping.
RESULTS: Nine initial study participants (median age 37 years) were included, one patient died shortly after first publication. At first examination, one patient was wheelchair dependent, one patient walked aided, and eight patients walked unaided. After 22 years, four patients were wheelchair dependent, three walked aided, and two walked unaided. Systemic features, including hearing loss (56%), intellectual disability (44%), and a decreased respiratory function (56%), were frequent. Patients participated socially and economically with most patients living in a regular house (n = 6) and/or having a paid job (n = 4).
CONCLUSIONS: Patients with early-onset FSHD generally had a severe phenotype compared to classical onset FSHD. However, after 22 years of follow up they showed a wide variation in severity and, despite these physical limitations, participated socially and economically. These observations are important for patient management and should be taken into account in clinical trials.