mitochondrial DNA depletion syndrome 2
MeSH: C563698ORPHA: 254875
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 mitochondrial DNA depletion syndrome 2, sourced from HPO and Orphanet clinical annotations.
MyopathyGeneralized hypotoniaMuscle weaknessRespiratory insufficiencyMotor deteriorationHypotoniaHyporeflexiaMotor delayGait disturbanceFailure to thrive in infancyRespiratory distressGeneralized-onset seizureDevelopmental regressionDistal muscle weaknessRespiratory insufficiency due to muscle weaknessRespiratory failureSkeletal muscle atrophyGeneralized muscle weaknessExercise intoleranceDifficulty standingRecurrent pneumoniaInfantile encephalopathyFeeding difficulties in infancyProgressive proximal muscle weaknessChronic fatigueProgressive external ophthalmoplegiaOphthalmoparesisDysarthriaBulbar palsyBilateral ptosisDysphagiaMyalgiaVentilator dependence with inability to weanInfantile sensorineural hearing impairmentSevere sensorineural hearing impairmentWeakness of facial musculatureCognitive impairmentScoliosisSpinal muscular atrophy
Classification & Codes
MeSH Code
C563698Orphanet Code
ORPHA:254875mitochondrial DNA depletion syndrome 2
| MeSH | C563698 |
| Orphanet | ORPHA:254875 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO