| H00591 | |
| H number | H00591 |
| Name | Facioscapulohumeral muscular dystrophy |
| Description | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.3 ICD-10: G71.0 MeSH: D020391 OMIM: 158900 158901 619477 619478 |
| Reference | PMID:21288772 AUTHORS van der Maarel SM, Tawil R, Tapscott SJ TITLE Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. JOURNAL Trends Mol Med 17:252-8 (2011) DOI:10.1016/j.molmed.2011.01.001 PMID:21149563 AUTHORS Cabianca DS, Gabellini D TITLE The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. JOURNAL J Cell Biol 191:1049-60 (2010) DOI:10.1083/jcb.201007028 PMID:23143600 AUTHORS Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM TITLE Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. JOURNAL Nat Genet 44:1370-4 (2012) DOI:10.1038/ng.2454 PMID:32467133 AUTHORS Hamanaka K, Sikrova D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM TITLE Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. JOURNAL Neurology 94:e2441-e2447 (2020) DOI:10.1212/WNL.0000000000009617 PMID:27153398 AUTHORS van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM TITLE Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. JOURNAL Am J Hum Genet 98:1020-1029 (2016) DOI:10.1016/j.ajhg.2016.03.013 |