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Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data
Rianne J M Goselink1, Nicol C Voermans1, Kees Okkersen1
1Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Neuromuscular Disorders : NMD
|November 6, 2017
Summary
Early onset facioscapulohumeral dystrophy (FSHD) presents with severe muscle issues and systemic features like hearing loss. This form of FSHD is more severe than adult-onset, highlighting the need for more research.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Facioscapulohumeral dystrophy (FSHD) affects approximately 1 in 15,000 individuals.
- Early onset FSHD (infantile or childhood) accounts for about 10% of all cases.
- Limited comprehensive data exists on the clinical phenotype of early onset FSHD.
Purpose of the Study:
- To systematically review and analyze the clinical features of early onset facioscapulohumeral dystrophy.
- To compare the phenotype of early onset FSHD with adult-onset FSHD.
- To identify research gaps in understanding early onset FSHD.
Main Methods:
- Systematic literature search of 43 articles.
- Inclusion of individual patient data from 227 patients.
- Inclusion of additional data from four author-provided cohorts.
Main Results:
- Mean age at reporting was 18.8 years; 40% were wheelchair-dependent.
- Systemic features were common: hearing loss (40%), retinal abnormalities (37%), developmental delay (8%).
- Inverse correlation between repeat size and disease severity; higher prevalence of de novo FSHD1 mutations.
Conclusions:
- Early onset FSHD exhibits a more severe muscle phenotype and higher systemic feature prevalence than adult-onset FSHD.
- Significant clinical heterogeneity exists within early onset FSHD.
- Urgent need for longitudinal natural history and treatment studies to improve prognostication and clinical management.
