Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

ObjectiveFacioscapulohumeral 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.MethodsWe performed a nationwide, single ‐investigator, natural history study on FSHD in childhood.ResultsMultiple ‐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 o f 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 ar ray of 5 units (range, 2–9), and 14% of the mutations were de novo.InterpretationFSHD in childhood is more prevalent than previously kn...
Source: Annals of Neurology - Category: Neurology Authors: Tags: Research Article Source Type: research