Article
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 - 1 Sept 2018
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
Abstract excerpt
AIM: 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...
Topics
- Adolescent
- Adult
- Age of Onset
- Female
- Follow-Up Studies
- Humans
- Male
- Middle Aged
- Muscular Dystrophy, Facioscapulohumeral
- Phenotype