Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data

Rianne J. M. Goselink*, Nicol C. Voermans, Kees Okkersen, Oebele F. Brouwer, George W. Padberg, Ana Nikolic, Rossella Tupler, Malgorzata Dorobek, Jean K. Mah, Baziel G. M. van Engelen, Tim H. A. Schreuder, Corrie E. Erasmus

*Bijbehorende auteur voor dit werk

    Onderzoeksoutput: Review articlepeer review

    20 Citaten (Scopus)

    Samenvatting

    Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from-four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness. (C) 2017 Elsevier B.V. All rights reserved.

    Originele taal-2English
    Pagina's (van-tot)1077-1083
    Aantal pagina's7
    TijdschriftNeuromuscular disorders
    Volume27
    Nummer van het tijdschrift12
    DOI's
    StatusPublished - dec-2017

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