Overview
Pure mitochondrial 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.
Difficulty running
Very frequent (80-99%)HP:0009046
Difficulty walking up stairs
Very frequent (80-99%)HP:0003551
Poor exercise tolerance
Very frequent (80-99%)HP:0003546
Proximal neurogenic muscle weakness
Very frequent (80-99%)HP:0003701
Distal limb muscle weakness due to peripheral neuropathy
Frequent (30-79%)HP:0002460
Exercise-induced muscle fatigue
Frequent (30-79%)HP:0009020
Fatigable weakness of neck muscles
Frequent (30-79%)HP:0030199
Frequent falls
Frequent (30-79%)HP:0002359
Hip-girdle muscle weakness
Frequent (30-79%)HP:0003749
Hyporeflexia of lower limbs
Frequent (30-79%)HP:0002600
Neck flexion weakness
Frequent (30-79%)HP:0003722
Positive Gower sign
Frequent (30-79%)HP:0003391
Shoulder girdle muscle weakness
Frequent (30-79%)HP:0003547
Symmetrical, proximal limb muscle atrophy
Frequent (30-79%)HP:0007126
Waddling gait
Frequent (30-79%)HP:0002515
Axial muscle weakness
Occasional (5-29%)HP:0003327
Bilateral ptosis
Occasional (5-29%)HP:0001488
Difficulty articulating speech
Occasional (5-29%)HP:0001260
External ophthalmoplegia, progressive
Occasional (5-29%)HP:0000590
Fatigable weakness of bulbar muscles
Occasional (5-29%)HP:0030192
Fatigable weakness of swallowing muscles
Occasional (5-29%)HP:0030195
Increased lumbar lordosis
Occasional (5-29%)HP:0002938
Loss of ambulation
Occasional (5-29%)HP:0002505
Muscle pain
Occasional (5-29%)HP:0003326
Muscle spasm
Occasional (5-29%)HP:0003394
Quadriceps weakness
Occasional (5-29%)HP:0003731
Breakdown of skeletal muscle
Very rare (1-4%)HP:0003201
Central hypotonia
Very rare (1-4%)HP:0001252
Double vision
Very rare (1-4%)HP:0000651
No development of motor milestones
Very rare (1-4%)HP:0001270
Related Conditions
Quick Facts
- SNOMED CT
- 732245008
- UMLS CUI
- C4517289
- Fully Specified Name
- Pure mitochondrial myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.