KEGG DISEASE: Facioscapulohumeral muscular dystrophy

KEGG

DISEASE: Facioscapulohumeral muscular dystrophy

Entry

H00591                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H00591  Facioscapulohumeral muscular dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06512  Chromosome cohesion and segregation
   H00591  Facioscapulohumeral muscular dystrophy

Network

nt06512 Chromosome cohesion and segregation

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]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

158900 158901 619477 619478

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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