Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	For children: pediatric neurology assessment	It is important to establish care & work for continuity as disease is slowly progressive.
For adults: referral to movement disorders neurologist	Progressive parkinsonism is more common in adult-onset MPAN.
Referral to neuromuscular clinic (OT/PT / rehab specialist)	To assess gross motor & fine motor skills, gait, ambulation & need for adaptive devices, PT/OT
Cognitive decline & neuropsychiatric abnormalities	Referral to psychiatrist, psychologist, or neuropsychologist	To assess cognitive dysfunction & neuropsychiatric involvement
For school-age children: developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Optic atrophy	Complete eye exam	To incl: BCVA Refractive error Color vision testing Slit lamp exam Dilated funduscopic exam
Dysarthria	Speech/language eval	For those w/severe dysarthria: assess need for means of alternative communication.
Dysphagia	For those w/frequent choking, severe dysphagia, or significant weight loss: assess nutritional status & aspiration risk.	Consider involving a gastroenterology/nutrition/feeding team.
Genetic counseling	By genetics professionals ¹	To inform patients & families re nature, MOI, & implications of MPAN to facilitate medical & personal decision making
Family support/ resources		Assess need for: Community resources & support/advocacy organizations (e.g., Parent to Parent); Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Neurologic

For children: pediatric neurology assessment

It is important to establish care & work for continuity as disease is slowly progressive.

For adults: referral to movement disorders neurologist

Progressive parkinsonism is more common in adult-onset MPAN.

Referral to neuromuscular clinic (OT/PT / rehab specialist)

To assess gross motor & fine motor skills, gait, ambulation & need for adaptive devices, PT/OT

Cognitive decline & neuropsychiatric abnormalities

Referral to psychiatrist, psychologist, or neuropsychologist

To assess cognitive dysfunction & neuropsychiatric involvement

For school-age children: developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Optic atrophy

Complete eye exam

To incl:

BCVA
Refractive error
Color vision testing
Slit lamp exam
Dilated funduscopic exam

Dysarthria

Speech/language eval

For those w/severe dysarthria: assess need for means of alternative communication.

Dysphagia

For those w/frequent choking, severe dysphagia, or significant weight loss: assess nutritional status & aspiration risk.

Consider involving a gastroenterology/nutrition/feeding team.

Genetic
counseling

By genetics professionals ¹

To inform patients & families re nature, MOI, & implications of MPAN to facilitate medical & personal decision making

Family support/
resources

Assess need for:

Community resources & support/advocacy organizations (e.g., Parent to Parent);
Social work involvement for parental support;
Home nursing referral.

From: Mitochondrial Membrane Protein-Associated Neurodegeneration

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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