Facioscapulohumeral muscular dystrophy type 2 (FSHD 2)

Evidence-based neurology checklist on facioscapulohumeral muscular dystrophy type 2 (fshd 2): Genetics FSHD2 accounts for 5-10% of phenotypic FSHD It is most frequently sporadic but some cases are familial It is caused by mutations in the SMCHD1 and DNMT3B gene mutations on chromosome 18p These…

Genetics

  • FSHD2 accounts for 5-10% of phenotypic FSHD
  • It is most frequently sporadic but some cases are familial
  • It is caused by mutations in the SMCHD1 and DNMT3B gene mutations on chromosome 18p
  • These genes are D4Z4 chromatin modifiers
  • The mutations result in D4Z4 hypomethylation
  • SMCHD1 is also involved in BAMS syndrome
  • FSHD2 can also be caused by LRIF1 gene mutation
  • Monosomy 18p (18p deletion syndrome) is also a risk factor
  • Other genetic risk factors are CAPN3 and VCP

Clinical features

Acronyms

References

  1. de Greef JC, Lemmers RJLF, Camano P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010; 75:1548-1554.
  2. Lemmers RJ, van den Boogaard ML, van der Vliet PJ, et al. Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: consequences for 18p deletion syndrome. Hum Mutat 2015; 36:679-683.
  3. Leidenroth A, Sorte SH, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE. Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. Eur J Hum Genet 2012; 20:999-1003.
  4. Hamanaka K, Šikrová D, Mitsuhashi S, et al. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology 2020; 94:e2441-e2447.
  5. Mah JK, Chen YW. A pediatric review of facioscapulohumeral muscular dystrophy. J Pediatr Neurol 2018; 16:222-231. 
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