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GTR Home > Conditions/Phenotypes > Facioscapulohumeral muscular dystrophy 2

Facioscapulohumeral muscular dystrophy 2

Synonyms
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2, DIGENIC; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B

Summary

Excerpted from the GeneReview: Facioscapulohumeral Muscular Dystrophy
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Matthew K Preston
Rabi Tawil
Leo H Wang
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Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAMS, FSHD2, SMCHD1
    Summary: structural maintenance of chromosomes flexible hinge domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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