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Condition report · Musculoskeletal

Facioscapulohumeral Muscular Dystrophy (FSHD)

An inherited muscular dystrophy that typically weakens the muscles of the face, shoulder blades and upper arms first, often unevenly on the two sides of the body.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Facioscapulohumeral muscular dystrophy

Autosomal dominant · Estimated to affect between 1 in 8,000 and 1 in 20,000 people.

A muscular dystrophy with onset usually in the teens or adulthood, caused by inappropriate activity of the DUX4 gene, either through a shortened D4Z4 repeat region on chromosome 4 (type 1) or variants in SMCHD1, DNMT3B or LRIF1 (type 2).

Also known as

facioscapulohumeral dystrophy; facioscapulohumeral myopathy; FSH dystrophy; FSHD

Includes 5 related subtypes ↓
  • facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy 2
  • facioscapulohumeral muscular dystrophy 3, digenic
  • facioscapulohumeral muscular dystrophy 4, digenic
  • muscular dystrophy, scapulohumeral
MONDO:0001347Orphanet 269MedGen 65956

Limitations

  • About 95% of FSHD (type 1) is caused by a shortened D4Z4 repeat region on chromosome 4, which cannot be reliably measured with short-read whole-genome sequencing. Only type 2 (mainly SMCHD1 variants) can be detected, so a negative result does not rule out FSHD.

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