Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact iFocus FSHDReportar como inadecuado

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BMC Neurology

, 16:138

Neuromuscular disorders and peripheral neurology


BackgroundFacioscapulohumeral muscular dystrophy FSHD; OMIM 158900 and 158901 is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10 % of FSHD patients have an early onset onset before 10 years of age and are traditionally classified as infantile FSHD. This subgroup is regarded as severely affected and extra-muscular symptoms, such as hearing loss and retinopathy, are frequently described. However, information on the prevalence, natural history and clinical management of early onset FSHD is currently lacking, thereby hampering adequate patient counselling and management. Therefore, a population-based prospective cohort study on FSHD in children is highly needed.

Methods-designThis explorative study aims to recruit all children aged 0–17 years with a genetically confirmed diagnosis of FSHD in The Netherlands. The children will be assessed at baseline and at 2-year follow-up. The general aim of the study is the description of the clinical features and genetic characteristics of this paediatric cohort. The primary outcome is the motor function as measured by the Motor Function Measure. Secondary outcomes include quantitative and qualitative description of the clinical phenotype, muscle imaging, genotyping and prevalence estimations. The ultimate objective will be a thorough description of the natural history, predictors of disease severity and quality of life in children with FSHD.

DiscussionThe results of this population-based study are vital for adequate patient management and clinical trial-readiness. Furthermore, this study is expected to provide additional insight in the epigenetic and environmental disease modifying factors. In addition to improve counselling, this could contribute to unravelling the aetiology of FSHD.

Trial registrationclinicaltrials.gov NCT02625662.

KeywordsFacioscapulohumeral dystrophy Neuromuscular diseases Muscular dystrophies Paediatrics Observational study AbbreviationsDNADeoxyribonucleic acid

DNMT3BDNA methyltransferase 3B

FSHDFacioscapulohumeral muscular dystrophy

ICF-YThe International Classification of Functioning, Disability and Health for children and youth

MFMMotor Function Measure

MRCMedical Research Council

PBMCPeripheral blood mononucleated cell

PFGEPulsed field gel electrophoresis

RNARibonucleic acid

SMCHD1Structural maintenance of chromosomes flexible hinge domain containing 1

UD4Z4 repeat unit

WHOWorld Health Organisation

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Autor: Rianne J. M. Goselink - Tim H. A. Schreuder - Karlien Mul - Nicol C. Voermans - Maaike Pelsma - Imelda J. M. de Groot

Fuente: https://link.springer.com/

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