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Pure mitochondrial myopathy

ORPHA: 254854

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Pure mitochondrial myopathy, sourced from HPO and Orphanet clinical annotations.

Exercise intoleranceDifficulty climbing stairsProximal muscle weaknessDifficulty runningFrequent fallsDistal muscle weaknessWaddling gaitHyporeflexia of lower limbsGowers signShoulder girdle muscle weaknessNeck flexor weaknessPelvic girdle muscle weaknessProximal amyotrophyExercise-induced muscle fatigueFatigable weakness of neck musclesProgressive external ophthalmoplegiaDysarthriaBilateral ptosisLoss of ambulationLumbar hyperlordosisMyalgiaAxial muscle weaknessMuscle spasmQuadriceps muscle weaknessFatigable weakness of bulbar musclesFatigable weakness of swallowing musclesDiplopiaHypotoniaMotor delayScoliosisRhabdomyolysisRecurrent myoglobinuriaScapular winging

Classification & Codes

Orphanet Code

ORPHA:254854
Pure mitochondrial myopathy
OrphanetORPHA:254854
Treatments0 drug(s)
Symptoms on record33 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO