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GTR Home > Conditions/Phenotypes > Facioscapulohumeral muscular dystrophy 1

Facioscapulohumeral muscular dystrophy 1

Synonyms
FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A

Summary

Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, 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. [from GeneReviews]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics 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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Imported from Human Phenotype Ontology (HPO)

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