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Facioscapulohumeral muscular dystrophy(FSHD; FMD)

MedGen UID:
65956
Concept ID:
C0238288
Disease or Syndrome
Synonym: Landouzy-Dejerine muscular dystrophy
SNOMED CT: Facioscapulohumeral muscular dystrophy (399091004); FSH - Facioscapulohumeral muscular dystrophy (399091004); Landouzy-Déjérine muscular dystrophy (399091004); Landouzy-Dejerine muscular dystrophy (399091004); FSHD - Facioscapulohumeral muscular dystrophy (399091004); FMD - Facioscapulohumeral muscular dystrophy (399091004); Fascioscapulohumeral muscular dystrophy (399091004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0001347
OMIM®: 158900
OMIM® Phenotypic series: PS158900
Orphanet: ORPHA269

Disease characteristics

Excerpted from the GeneReview: Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GeneReviews]
Authors:
Matthew K Preston  |  Rabi Tawil  |  Leo H Wang   view full author information

Additional description

From OMIM
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; 310200) and myotonic (160900) dystrophy (Tawil et al., 1998; van den Boogaard et al., 2016; Johnson and Ankala, 2020; Schatzl et al., 2021). Richards et al. (2012) and Schatzl et al. (2021) provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues. Genetic Heterogeneity of FSHD Several other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by Hamanaka et al., 2020; Johnson and Ankala, 2020; review by Schatzl et al., 2021). FSHD2 (158901) is caused by mutation in the SMCHD1 gene (614982) on chromosome 18p11; FSHD3 (619477) by mutation in the LRIF1 gene (615354) on chromosome 1p13; and FSHD4 (619478) by mutation in the DMNT3B gene (602900) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 (606009) expression. There is significant clinical variability and incomplete penetrance.  http://www.omim.org/entry/158900

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacioscapulohumeral muscular dystrophy
Follow this link to review classifications for Facioscapulohumeral muscular dystrophy in Orphanet.

Recent clinical studies

Etiology

Işık F, Akyüz A, Çap M, Türken A, Varsak S, Baysal E
Anatol J Cardiol 2022 Jul;26(7):525-531. doi: 10.5152/AnatolJCardiol.2022.907. PMID: 35791708Free PMC Article
Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S
J Neuromuscul Dis 2022;9(1):83-93. doi: 10.3233/JND-210711. PMID: 34459413Free PMC Article
Lassche S, Voermans NC, Schreuder T, Heerschap A, Küsters B, Ottenheijm CA, Hopman MT, van Engelen BG
Muscle Nerve 2021 Jan;63(1):60-67. Epub 2020 Oct 15 doi: 10.1002/mus.27074. PMID: 32959362Free PMC Article
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Rudnik-Schöneborn S, Huemer M, Weis J, Sauer E, Meng G
Neuromuscul Disord 2019 Dec;29(12):973-976. Epub 2019 Oct 1 doi: 10.1016/j.nmd.2019.09.015. PMID: 31708336

Diagnosis

Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S
J Neuromuscul Dis 2022;9(1):83-93. doi: 10.3233/JND-210711. PMID: 34459413Free PMC Article
Cohen J, DeSimone A, Lek M, Lek A
Trends Mol Med 2021 Feb;27(2):123-137. Epub 2020 Oct 19 doi: 10.1016/j.molmed.2020.09.008. PMID: 33092966Free PMC Article
Hamel J, Tawil R
Neurol Clin 2020 Aug;38(3):529-540. doi: 10.1016/j.ncl.2020.03.003. PMID: 32703466
Rudnik-Schöneborn S, Huemer M, Weis J, Sauer E, Meng G
Neuromuscul Disord 2019 Dec;29(12):973-976. Epub 2019 Oct 1 doi: 10.1016/j.nmd.2019.09.015. PMID: 31708336
Esnault J, Missaoui B, Bendaya S, Mane M, Eymard B, Laforet P, Stojkovic T, Behin A, Thoumie P
Neuromuscul Disord 2018 Dec;28(12):996-1002. Epub 2018 Sep 27 doi: 10.1016/j.nmd.2018.09.007. PMID: 30415787

Therapy

Ghasemi M, Emerson CP Jr, Hayward LJ
Cells 2022 Feb 16;11(4) doi: 10.3390/cells11040687. PMID: 35203336Free PMC Article
Monforte M, Bortolani S, Torchia E, Cristiano L, Laschena F, Tartaglione T, Ricci E, Tasca G
J Neurol 2022 Apr;269(4):2055-2063. Epub 2021 Sep 6 doi: 10.1007/s00415-021-10786-1. PMID: 34486074
Iodice R, Ugga L, Aruta F, Iovino A, Ruggiero L
Acta Myol 2020 Mar;39(1):29-31. Epub 2020 Mar 1 doi: 10.36185/2532-1900-005. PMID: 32607477Free PMC Article
Lim KRQ, Maruyama R, Echigoya Y, Nguyen Q, Zhang A, Khawaja H, Sen Chandra S, Jones T, Jones P, Chen YW, Yokota T
Proc Natl Acad Sci U S A 2020 Jul 14;117(28):16509-16515. Epub 2020 Jun 29 doi: 10.1073/pnas.1909649117. PMID: 32601200Free PMC Article
Savcun Demirci C, Onursal Kılınç Ö, Yıldız Tİ, Ayvat E, Ayvat F, Turgut E, Düzgün İ, Aksu Yıldırım S, Kılınç M
Neurol Sci 2019 Aug;40(8):1583-1588. Epub 2019 Apr 9 doi: 10.1007/s10072-019-03846-y. PMID: 30968229

Prognosis

Teeselink S, Vincenten SCC, Voermans NC, Groothuis JT, Doorduin J, Wijkstra PJ, Horlings CGC, van Engelen BGM, Mul K
J Neurol 2022 Jul;269(7):3682-3689. Epub 2022 Feb 11 doi: 10.1007/s00415-022-10990-7. PMID: 35147730Free PMC Article
Xiao T, Yang H, Gan S, Wu L
Medicine (Baltimore) 2021 Nov 24;100(47):e27907. doi: 10.1097/MD.0000000000027907. PMID: 34964760Free PMC Article
Chen TH, Wu YZ, Tseng YH
Int J Mol Sci 2020 Oct 21;21(20) doi: 10.3390/ijms21207783. PMID: 33096728Free PMC Article
Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Rudnik-Schöneborn S, Huemer M, Weis J, Sauer E, Meng G
Neuromuscul Disord 2019 Dec;29(12):973-976. Epub 2019 Oct 1 doi: 10.1016/j.nmd.2019.09.015. PMID: 31708336

Clinical prediction guides

Arbogast S, Kotzur H, Frank C, Compagnone N, Sutra T, Pillard F, Pietri S, Hmada N, Moussa DMA, Bride J, Françonnet S, Mercier J, Cristol JP, Dabauvalle MC, Laoudj-Chenivesse D
Redox Biol 2022 Oct;56:102450. Epub 2022 Aug 22 doi: 10.1016/j.redox.2022.102450. PMID: 36030628Free PMC Article
Teeselink S, Vincenten SCC, Voermans NC, Groothuis JT, Doorduin J, Wijkstra PJ, Horlings CGC, van Engelen BGM, Mul K
J Neurol 2022 Jul;269(7):3682-3689. Epub 2022 Feb 11 doi: 10.1007/s00415-022-10990-7. PMID: 35147730Free PMC Article
Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S
J Neuromuscul Dis 2022;9(1):83-93. doi: 10.3233/JND-210711. PMID: 34459413Free PMC Article
Veltsista D, Chroni E
Acta Neurol Scand 2021 Aug;144(2):216-220. Epub 2021 Apr 12 doi: 10.1111/ane.13428. PMID: 33844852
Bayram S, Kendirci AŞ, Karalar Ş, Durmuş Tekçe H, Parman FY, Akgül T, Durmaz H
Clin Neurol Neurosurg 2020 Nov;198:106137. Epub 2020 Aug 5 doi: 10.1016/j.clineuro.2020.106137. PMID: 32791439

Recent systematic reviews

de Valle K, McGinley JL, Woodcock I, Ryan MM, Dobson F
Neuromuscul Disord 2019 Nov;29(11):881-894. Epub 2019 Sep 6 doi: 10.1016/j.nmd.2019.09.003. PMID: 31590908
Goselink RJM, Voermans NC, Okkersen K, Brouwer OF, Padberg GW, Nikolic A, Tupler R, Dorobek M, Mah JK, van Engelen BGM, Schreuder THA, Erasmus CE
Neuromuscul Disord 2017 Dec;27(12):1077-1083. Epub 2017 Sep 21 doi: 10.1016/j.nmd.2017.09.007. PMID: 29102079
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts ACh
Cochrane Database Syst Rev 2010 Jan 20;(1):CD003907. doi: 10.1002/14651858.CD003907.pub3. PMID: 20091552
Orrell RW, Copeland S, Rose MR
Cochrane Database Syst Rev 2010 Jan 20;(1):CD003278. doi: 10.1002/14651858.CD003278.pub2. PMID: 20091543Free PMC Article
Rose MR, Tawil R
Cochrane Database Syst Rev 2004;(2):CD002276. doi: 10.1002/14651858.CD002276.pub2. PMID: 15106171Free PMC Article

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