Facioscapulohumeral muscular dystrophy
- Synonyms
- Landouzy-Dejerine muscular dystrophy
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview: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
- view full author information
Available tests
5 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (5 available)
Cytogenetics Tests
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