GTR Home > Conditions/Phenotypes > Facioscapulohumeral muscular dystrophy

Summary

Excerpted from the GeneReview: Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and 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.

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: FRG1A, FSG1, FRG1
    Summary: FSHD region gene 1

Clinical features

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