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Tytuł:
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Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.
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Autorzy:
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Goselink RJM; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: .
Voermans NC; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Okkersen K; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Brouwer OF; Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Padberg GW; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Nikolic A; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Tupler R; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, USA.
Dorobek M; Department of Neurology, Central Clinical Hospital of the Ministry of Interior in Warsaw, Warsaw, Poland.
Mah JK; Department of Paediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
van Engelen BGM; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Schreuder THA; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
Erasmus CE; Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands.
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Źródło:
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Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Dec; Vol. 27 (12), pp. 1077-1083. Date of Electronic Publication: 2017 Sep 21.
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Typ publikacji:
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Journal Article; Review; Systematic Review
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Język:
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English
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Imprint Name(s):
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Original Publication: Oxford ; New York : Pergamon Press, c1991-
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MeSH Terms:
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Age of Onset*
Muscular Dystrophy, Facioscapulohumeral/*physiopathology
Adult ; Child ; Humans ; Infant ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/therapy
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Contributed Indexing:
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Keywords: Early onset; Facioscapulohumeral dystrophy; Infantile FSHD
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SCR Disease Name:
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Facioscapulohumeral muscular dystrophy 1a
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Entry Date(s):
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Date Created: 20171106 Date Completed: 20180718 Latest Revision: 20181202
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Update Code:
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20240104
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DOI:
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10.1016/j.nmd.2017.09.007
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PMID:
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29102079
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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.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
