pure mitochondrial myopathy
Findings
No curated finding names pure mitochondrial myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
Definition from the Mondo Disease Ontology (MONDO:0016807), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Difficulty climbing stairsHPOHP:0003551
- Very frequent (80% to 99% of cases)
- Difficulty runningHPOHP:0009046
- Very frequent (80% to 99% of cases)
- Exercise intoleranceHPOHP:0003546
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Exercise-induced muscle fatigueHPOHP:0009020
- Frequent (30% to 79% of cases)
Show the remaining 21
- Proximal amyotrophyHPOHP:0007126
- Frequent (30% to 79% of cases)
- Shoulder girdle muscle weaknessHPOHP:0003547
- Frequent (30% to 79% of cases)
- Waddling gaitHPOHP:0002515
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Occasional (5% to 29% of cases)
- Bilateral ptosisHPOHP:0001488
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
Where it sits
- A kind of