GTR Home > Conditions/Phenotypes > Facioscapulohumeral muscular dystrophy 2

Disease characteristics

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

4 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

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  • Pelvic girdle muscle weakness
  • Hearing impairment
  • Foot dorsiflexor weakness
  • Facial palsy

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