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autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA: 457050

Contents

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

Overview

human disease

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 autosomal dominant mitochondrial myopathy with exercise intolerance, sourced from HPO and Orphanet clinical annotations.

Restrictive ventilatory defectIncreased circulating lactate concentrationRagged-red muscle fibersExercise intoleranceNeck flexor weaknessShort statureMildly elevated creatine kinaseProximal lower limb muscle weaknessDistal lower limb muscle weaknessIncreased intramyocellular lipid dropletsWeakness of facial musculatureIncreased mitochondrial numberProximal upper limb muscle weakness

Classification & Codes

Orphanet Code

ORPHA:457050
autosomal dominant mitochondrial myopathy with exercise intolerance
OrphanetORPHA:457050
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO