Table 4.

Treatment of Manifestations in a Proband with a mtDNA Maintenance Defect Resulting in Chronic Disease

Manifestation/
Concern		Treatment
Ptosis Ptosis blepharoplasty
Sensorineural hearing loss Hearing aids & cochlear implantation (See POLG-Related Disorders, RRM2B Mitochondrial DNA Maintenance Defects, Hereditary Hearing Loss and Deafness Overview.)
Cardiomyopathy, hypertrophic or dilated
  • Referral to cardiologist
  • Standard treatment
Respiratory insufficiency
  • Referral to pulmonologist &/or sleep medicine physician
  • Aggressive antibiotic treatment of chest infections
  • Chest physiotherapy
  • Artificial ventilation including assisted nasal ventilation (CPAP or BiPAP) or intubation w/use of tracheostomy & ventilator (See TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form.)
Liver failure
  • Referral to hepatologist
  • Reduction in dietary protein
  • Correction of coagulopathy
  • Frequent or continuous feeding to prevent hypoglycemia
  • Consideration of liver transplant
Gastrointestinal dysmotility
Failure to thrive &
feeding difficulties
  • Nutritional support
  • Gastrostomy tube placement
Renal tubulopathy
  • Referral to nephrologist
  • Correction of acidosis & other metabolic derangements
Neuropathy
  • Referral to neurologist
  • Amitriptyline, nortriptyline, & gabapentin
Seizures
  • Referral to neurologist
  • Standard ASM (Refractory epilepsy may require high doses &/or use of multiple ASMs.)
Hypoglycemia
  • Frequent feeding & avoidance of fasting
  • Uncooked cornstarch

ASM = anti-seizure medication

From: Mitochondrial DNA Maintenance Defects Overview

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