Table 4.

Treatment of Manifestations in Individuals with Mitochondrial Membrane Protein-Associated Neurodegeneration

Manifestation/
Concern		TreatmentConsiderations/Other
Cognitive decline
in adults 		Progressive supports will be needed to assist w/ADL.Most persons in end stages of disease require full-time care.
DD/ID in children See Developmental Delay / Intellectual Disability Management Issues.
Neuropsychiatric
complications 		By psychiatristTreatment is generally symptomatic & follows standard practice.
Optic atrophy If symptomatic, magnifying visual aids
  • Use of low vision aids 1
  • Work w/agencies for visually impaired 2
Dystonia/
Spasticity 		Pharmacologic treatmentConsider oral baclofen, trihexyphenidyl, intramuscular botulinum toxin, & a trial of intrathecal baclofen if indicated.
Parkinsonism Pharmacologic treatmentResponse to levodopa & other medications is variable, but sometimes quite good for several years.
Dysarthria Speech/language resources for means of alternative communicationCognitive decline may complicate treatment.
Dysphagia
& related
complications
  • Consider nutritional & vitamin supplementation to meet dietary needs.
  • Gastric feeding tube as needed to minimize weight loss & ↓ risk of aspiration
  • Glycopyrrolate or transdermal scopolamine patch to ↓ volume of secretions
  • Consider tracheostomy.
The authors encourage providers to open an ongoing dialog about feeding tubes. While some may at first resist using a feeding tube, many families later indicate they wish they had done so sooner.
Constipation Over-the-counter fiber supplements &/or stool softenersCommon; likely caused by a combination of immobility, medications, diet, & the disease itself
Family/
Community 		Ensure appropriate social work involvement to connect families w/local resources, respite, & support.Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Ethics
consultation 		Clinical ethics servicesAssess health care decisions in context of the best interest of the child & values & preferences of the family.

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

1.

Low vision aids such as magnifiers and closed circuit television may provide useful reading vision for individuals with reduced central acuity and constricted visual fields.

2.

In the US, publicly funded agencies at the state level provide services for the blind or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.

From: Mitochondrial Membrane Protein-Associated Neurodegeneration

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