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

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Rianne J M GoselinkB G M van Engelen

Abstract

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 economical...Continue Reading

Citations

Feb 23, 2020·Clinical Genetics·Anna GrecoSilvère M van der Maarel
Oct 24, 2020·Trends in Molecular Medicine·Justin CohenAngela Lek
Oct 25, 2020·International Journal of Molecular Sciences·Tai-Heng ChenYung-Hao Tseng
Oct 23, 2021·Neurology·Jildou N DijkstraCorrie E Erasmus
Sep 21, 2021·Brain : a Journal of Neurology·Natalie K KatzJeffrey M Statland

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