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adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

ORPHA: 329314

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 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, sourced from HPO and Orphanet clinical annotations.

Progressive external ophthalmoplegiaBilateral ptosisDysphagiaLimb-girdle muscle weaknessSensory axonal neuropathyLimb-girdle muscle atrophyLower limb muscle weaknessAdult onset sensorineural hearing impairmentStrabismusCataractOptic atrophyDepressionDementiaAtaxiaDysphoniaMyalgiaMuscle spasmViral infection-induced rhabdomyolysisPelvic girdle muscle weaknessAstheniaCognitive impairment

Classification & Codes

Orphanet Code

ORPHA:329314
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
OrphanetORPHA:329314
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO