Premium
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Author(s) -
Goselink Rianne J.M.,
Schreuder Tim H.A.,
van Alfen Nens,
de Groot Imelda J.M.,
Jansen Merel,
Lemmers Richard J.L.F.,
van der Vliet Patrick J.,
van der Stoep Nienke,
Theelen Thomas,
Voermans Nicol C.,
van der Maarel Silvère M.,
van Engelen Baziel G.M.,
Erasmus Corrie E.
Publication year - 2018
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.25326
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , natural history study , natural history , subclinical infection , quality of life (healthcare) , disease , weakness , muscular dystrophy , pediatrics , physical therapy , surgery , nursing
Objective Facioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease severity. The natural history and molecular characteristics of FSHD in childhood are incompletely understood. Our objective is to clinically and genetically characterize FSHD in childhood. Methods We performed a nationwide, single‐investigator, natural history study on FSHD in childhood. Results Multiple‐source recruitment resulted in 32 patients with FSHD (0–17 years), leading to an estimated prevalence of 1 in 100,000 children in The Netherlands. This series of 32 children with FSHD revealed a heterogeneous phenotype and genotype in childhood. The phenotypic hallmarks of FSHD in childhood are: facial weakness with normal or only mildly affected motor performance, decreased functional exercise capacity (6‐minute walk test), lumbar hyperlordosis, and increased echo intensity on muscle ultrasonography. In addition, pain and fatigue were frequent and patients experienced a lower quality of life compared to healthy peers. In contrast to the literature on early‐onset FSHD, systemic features such as hearing loss and retinal and cardiac abnormalities were infrequent and subclinical, and epilepsy and intellectual disability were absent. Genotypically, patients had a mean D4Z4 repeat array of 5 units (range, 2–9), and 14% of the mutations were de novo. Interpretation FSHD in childhood is more prevalent than previously known and the genotype resembles classic FSHD. Importantly, FSHD mainly affects functional exercise capacity and quality of life in children. As such, these results are paramount for counseling, clinical management, and stratification in clinical research. Ann Neurol 2018;84:635–645