A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

• Published in: European journal of paediatric neurology 2018-09, Vol.22 (5), p.782-785
• Main Authors: Goselink, Rianne J.M., van Kernebeek, Caroline R., Mul, Karlien, Lemmers, Richard J.L.F., van der Maarel, Silvère M., Brouwer, Oebele F., Voermans, Nicol, Padberg, George W., Erasmus, Corrie E., van Engelen, Baziel G.M.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age of Onset; Early-onset FSHD; Facioscapulohumeral dystrophy; Female; Follow-Up Studies; Humans; Infantile FSHD; Male; Middle Aged; Muscular Dystrophy, Facioscapulohumeral - complications; Natural history; Neuromuscular disorders; Phenotype
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2018.04.013

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. 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. 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). 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. •First report on long-term follow-up of early-onset facioscapulohumeral muscular dystrophy.•Patients showed severe muscle weakness and frequent systemic features.•However, the phenotype was heterogenic including mildly affected patients as well.•Most patients remained independent with help and participated socially and economically.