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X-linked myopathy with postural muscle atrophy
disorderSNOMED 773729007CUI C2678055
Overview
X-linked myopathy with postural muscle atrophy is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Achilles tendon contracture
Always present (100%)HP:0001771
Back pain
Always present (100%)HP:0003418
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Hamstring contractures
Always present (100%)HP:0003089
Hypertrophic muscles
Always present (100%)HP:0003712
Increased variation in muscle fibre size
Always present (100%)HP:0003557
Limited neck flexibility
Always present (100%)HP:0005991
Neurogenic muscle atrophy, especially in the lower limbs
Always present (100%)HP:0003202
Neurogenic scapuloperoneal syndrome
Always present (100%)HP:0003704
Scapular weakness
Always present (100%)HP:0003691
Scoliosis
Always present (100%)HP:0002650
Short neck
Always present (100%)HP:0000470
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Abnormal heart rate
Occasional (5-29%)HP:0011675
Respiratory insufficiency
Occasional (5-29%)HP:0002093
Proximal neurogenic muscle weakness
HP:0003701
Rimmed vacuoles
HP:0003805
Spinal rigidity
HP:0003306
Quick Facts
- SNOMED CT
- 773729007
- UMLS CUI
- C2678055
- Fully Specified Name
- X-linked myopathy with postural muscle atrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.