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last update : 01-06-2016
Symbol FSHD2
Location 18p11.32
Name Fascioscapulohumeral muscular dystrophy 2, digenic
Corresponding gene SMCHD1
Main clinical features
  • muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities; the pattern of weakness is usually asymmetric
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . FSHD2 involves chromatin relaxation due to mutations that affect a chromatin modifier (black dots), most often SMCHD1 (PMID: 27153398))
  • In the rare FSHD2 type of the disease, D4Z4 hypomethylation is observed on all D4Z4 repeat arrays in the absence of D4Z4 contractions (PMID: 27153398))
  • FSHD2 mutations result in decreased ATP hydrolysis (PMID: 29748383))
  • Genotype/Phenotype correlations
  • mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of Facioscapulohumeral Dystrophy (FSHMD1A, FSHD2) (PMID: 27153398))