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 (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
23 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Pelvic girdle muscle weakness
Pelvic girdle muscle weakness
- MedGen UID: 96534
- Concept ID: C0427064
- Finding: Finding
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Foot dorsiflexor weakness
- Abnormality of the musculoskeletal system
- Beevor sign
Beevor sign
- MedGen UID: 533911
- Concept ID: C0231616
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Scapulohumeral muscular dystrophy
Scapulohumeral muscular dystrophy
- MedGen UID: 98373
- Concept ID: C0410192
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Beevor sign
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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