{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T01:08:44Z","timestamp":1780880924933,"version":"3.54.1"},"reference-count":86,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:p>\u00a0Facioscapulohumeral muscular dystrophy (FSHD) is an exclusively human neuromuscular disease. In the last decades the cause of FSHD was identified: the loss of epigenetic repression of the D4Z4 repeat on chromosome 4q35 resulting in inappropriate transcription of DUX4. This is a consequence of a reduction of the array below 11 units (FSHD1) or of a mutation in methylating enzymes (FSHD2). Both require the presence of a 4qA allele and a specific centromeric SSLP haplotype. Muscles become involved in a rostro-caudally order with an extremely variable progression rate. Mild disease and non-penetrance in families with affected individuals is common. Furthermore, 2% of the Caucasian population carries the pathological haplotype without clinical features of FSHD. In order to explain the various features of FSHD we applied Ockham\u2019s Razor to all possible scenarios and removed unnecessary complexities. We postulate that early in embryogenesis a few cells escape epigenetic silencing of the D4Z4 repeat. Their number is assumed to be roughly inversely related to the residual D4Z4 repeat size. By asymmetric cell division, they produce a rostro-caudal and medio-lateral decreasing gradient of weakly D4Z4-repressed mesenchymal stem cells. The gradient tapers towards an end as each cell-division allows renewed epigenetic silencing. Over time, this spatial gradient translates into a temporal gradient based on a decreasing number of weakly silenced stem cells. These cells contribute to a mildly abnormal myofibrillar structure of the fetal muscles. They also form a downward tapering gradient of epigenetically weakly repressed satellite cells. When activated by mechanical trauma, these satellite cells de-differentiate and express DUX4. When fused to myofibrils they contribute to muscle cell death in various ways. Over time and dependent on how far the gradient reaches the FSHD phenotype becomes progressively manifest. We thus hypothesize FSHD to be a myodevelopmental disease with a lifelong attempt to restore DUX4 repression.<\/jats:p>","DOI":"10.3233\/jnd-221624","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T10:50:52Z","timestamp":1677840652000},"page":"411-425","source":"Crossref","is-referenced-by-count":6,"title":["Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham\u2019s razor to its various features"],"prefix":"10.1177","volume":"10","author":[{"given":"G.W.","family":"Padberg","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.G.M.","family":"van Engelen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"5999","key":"10.3233\/JND-221624_ref1","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"10.3233\/JND-221624_ref2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1146\/annurev-genom-083118-014933","article-title":"The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy","volume":"20","author":"Himeda","year":"2019","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"5","key":"10.3233\/JND-221624_ref3","doi-asserted-by":"crossref","first-page":"166367","DOI":"10.1016\/j.bbadis.2022.166367","article-title":"The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy","volume":"1868","author":"Jagannathan","year":"2022","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"issue":"8","key":"10.3233\/JND-221624_ref4","doi-asserted-by":"crossref","first-page":"e13695","DOI":"10.15252\/emmm.202013695","article-title":"Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: Roles of DUX4 and PAX7","volume":"13","author":"Banerji","year":"2021","journal-title":"EMBO Mol Med"},{"issue":"1","key":"10.3233\/JND-221624_ref5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13023-021-01760-1","article-title":"Facioscapulohumeral muscular dystrophy: Genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: An update","volume":"16","author":"Sch\u00e4tzl","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.3233\/JND-221624_ref6","doi-asserted-by":"crossref","unstructured":"Lim KRQ , Nguyen Q , Yokota T . 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Int J Mol Sci. 2022;23(4).","DOI":"10.3390\/ijms23041983"},{"issue":"4","key":"10.3233\/JND-221624_ref8","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ajhg.2012.02.019","article-title":"Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy","volume":"90","author":"Scionti","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"Pt 11","key":"10.3233\/JND-221624_ref9","doi-asserted-by":"crossref","first-page":"3408","DOI":"10.1093\/brain\/awt226","article-title":"Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy","volume":"136","author":"Ricci","year":"2013","journal-title":"Brain"},{"issue":"5","key":"10.3233\/JND-221624_ref10","doi-asserted-by":"crossref","first-page":"e444","DOI":"10.1212\/WNL.0000000000005915","article-title":"A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1","volume":"91","author":"Wohlgemuth","year":"2018","journal-title":"Neurology"},{"key":"10.3233\/JND-221624_ref11","unstructured":"Padberg G . 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DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy. Cells. 2021;10(12).","DOI":"10.3390\/cells10123322"},{"issue":"8","key":"10.3233\/JND-221624_ref42","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1093\/hmg\/ddy405","article-title":"Dynamic transcriptomic analysis reveals suppression of PGC1\u03b1\/ERR\u03b1 drives perturbed myogenesis in facioscapulohumeral muscular dystrophy","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"13","key":"10.3233\/JND-221624_ref43","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1093\/hmg\/ddz043","article-title":"PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.3233\/JND-221624_ref44","doi-asserted-by":"crossref","first-page":"102251","DOI":"10.1016\/j.redox.2022.102251","article-title":"Interplay between mitochondrial 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