Overview
Sarcotubular myopathy 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.
EMG: myopathic changes
Always present (100%)HP:0003458
Proximal limb muscle weakness
Always present (100%)HP:0003701
Symmetrical, proximal limb muscle atrophy
Always present (100%)HP:0007126
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
Gait disturbance
Very frequent (80-99%)HP:0001288
Increased variation in muscle fibre size
Very frequent (80-99%)HP:0003557
Mask-like facies
Very frequent (80-99%)HP:0000298
Myopathy
Very frequent (80-99%)HP:0003198
Proximal muscle weakness in lower limbs
Very frequent (80-99%)HP:0008994
Waddling gait
Very frequent (80-99%)HP:0002515
Accelerated linear growth
Frequent (30-79%)HP:0000098
Loss of ambulation
Frequent (30-79%)HP:0002505
Paresthesia
Frequent (30-79%)HP:0003401
Absent tendon reflexes
HP:0001284
Calf muscle pseudohypertrophy
HP:0003707
Central nuclei
HP:0003687
Facial palsy
HP:0010628
Hip-girdle muscle weakness
HP:0003749
Hyporeflexia
HP:0001265
Muscle biopsy shows dystrophic changes
HP:0003560
Muscle pain with exercise
HP:0003738
Neck flexion weakness
HP:0003722
Pelvic girdle muscle wasting
HP:0008988
Positive Gower sign
HP:0003391
Quadriceps weakness
HP:0003731
Shoulder girdle muscle wasting
HP:0003724
Shoulder girdle muscle weakness
HP:0003547
Related Conditions
Quick Facts
- SNOMED CT
- 43226001
- UMLS CUI
- C0270968
- Fully Specified Name
- Sarcotubular myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.