Table 5.

Treatment of Manifestations in Individuals with TK2-Related mtDNA Maintenance Defect

Manifestation/ConcernTreatmentConsiderations/Other
Feeding difficulties Placement of nasogastric or gastrostomy tubeIf risk of aspiration is high
Hearing loss Standard treatmentSee Hereditary Hearing Loss and Deafness Overview.
Decreased pulmonary function Chest physiotherapy 1Consider referral to pulmonologist.
Respiratory failure Ventilator assistance may be considered.
Pulmonary infection Standard treatmentTo prevent deterioration in pulmonary function capacity
Muscle weakness /
Restricted mobility 		Physical therapyConsider referral to physical medicine & rehabilitation specialist.
Wheelchair may be necessary as disease progresses.
Seizures Standard treatment per neurologistEducation regarding common seizure presentations is appropriate 2.
1.

Chest physiotherapy may improve pulmonary function and reduce the risk of pulmonary infection.

2.

For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form

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