Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated circulating creatine phosphokinase
Always present (100%)HP:0003236
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Fatigable weakness of limb muscles
Very frequent (80-99%)HP:0003473
Fatiguable weakness of proximal limb muscles
Very frequent (80-99%)HP:0030200
Muscle fibre tubular aggregates
Very frequent (80-99%)HP:0100301
Muscle pain
Very frequent (80-99%)HP:0003326
Central nuclei
Frequent (30-79%)HP:0003687
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Joint contracture
Frequent (30-79%)HP:0034392
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Abnormal pupil morphology
Occasional (5-29%)HP:0000615
CPEO
Occasional (5-29%)HP:0000544
Flexion contractures
Occasional (5-29%)HP:0001371
Night blindness
Occasional (5-29%)HP:0000662
Respiratory function loss
Occasional (5-29%)HP:0002093
Type 2 muscle fibre atrophy
Occasional (5-29%)HP:0003554
Areflexia in lower limbs
HP:0002522
Difficulty running
HP:0009046
Frequent falls
HP:0002359
Hyporeflexia of lower limbs
HP:0002600
Muscle pain with exercise
HP:0003738
Muscle spasm
HP:0003394
Muscle stiffness
HP:0003552
Myopathy
HP:0003198
Symmetrical, proximal limb muscle atrophy
HP:0007126
Tired easily
HP:0003388
Weakness of the intrinsic hand muscles
HP:0009005
Related Conditions
Quick Facts
- SNOMED CT
- 240087000
- UMLS CUI
- C0410207
- Fully Specified Name
- Myopathy with tubular aggregates (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.