Facioscapulohumeral muscular dystrophy 1
- Synonyms
- FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES; Facioscapulohumeral muscular dystrophy 1a
Summary
Excerpted from the GeneReview:- 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
Check Related conditions for additional relevant tests.
Clinical tests (9 available)
Clinical features
Help- Abnormality of head or neck
- Tongue atrophy
Tongue atrophy
- MedGen UID: 66828
- Concept ID: C0241423
- Finding: Finding
Abnormality of head or neck
- Tongue atrophy
- Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
- MedGen UID: 339837
- Concept ID: C1847766
- Finding: Finding
Abnormality of limbs
- Shoulder girdle muscle weakness
Shoulder girdle muscle weakness
- MedGen UID: 96533
- Concept ID: C0427063
- Finding: Finding
Abnormality of limbs
- Scapular winging
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- External ophthalmoplegia
External ophthalmoplegia
- MedGen UID: 57662
- Concept ID: C0162292
- Finding: Disease or Syndrome
Abnormality of the eye
- Exudative retinal detachment
Exudative retinal detachment
- MedGen UID: 57823
- Concept ID: C0154822
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal telangiectasia
Retinal telangiectasia
- MedGen UID: 57598
- Concept ID: C0154835
- Finding: Disease or Syndrome
Abnormality of the eye
- External ophthalmoplegia
- Abnormality of the musculoskeletal system
- Abdominal wall muscle weakness
Abdominal wall muscle weakness
- MedGen UID: 867169
- Concept ID: C4021527
- Finding: Finding
Abnormality of the musculoskeletal system
- Beevor sign
Beevor sign
- MedGen UID: 533911
- Concept ID: C0231616
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
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
- Abdominal wall muscle weakness
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Restrictive ventilatory defect
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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