Table 5.

Recommended Surveillance for Individuals with Mitochondrial Membrane Protein-Associated Neurodegeneration

System/ConcernEvaluationFrequency
Neurologic
manifestations
  • Neurologic assessment for progression
  • Assess response to medications, side effects, &/or need for new medications or dosage adjustments.
  • When stable: annually
  • Others: may need at 3-6-mo intervals
Musculoskeletal/
ADL 		OT/PT assessment of ambulation, gross motor skills, fine motor skills, ADLAnnually until later disease stage, when these become unnecessary
Cognitive/
Psychiatric 		Evaluate mood, signs of psychosis, cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.When indicated by onset of new manifestations
DD/ID in children To assess educational needsAnnually
Optic atrophy Eye exam, visual acuity, color vision, visual field testing, dilated examEvery 1-2 yrs
Monitor effectiveness of visual aids.Annually
Dysarthria Assessment of communication needs
  • Children: annually
  • Adults: every 1-3 yrs
Dysphagia Assessment of swallowing, feeding, nutrition (often by feeding team)As indicated by onset of new manifestations
Social support Assessment of family's access to resources & support (e.g., in-home nursing, respite care)Annually

ADL = activities of daily living; DD = developmental delay; ID = intellectual disability

From: Mitochondrial Membrane Protein-Associated Neurodegeneration

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