Table 10. [Recommended Surveillance of RRM2B-MDMD, Encephalomyopathic Form]. - GeneReviews®

System/Concern	Evaluation	Suggested Frequency of Outpatient Surveillance After Initial Assessment (per treating clinician)
Neurologic status incl possible seizures / subclinical status epilepticus	By pediatric neurologist; to incl EEG & video EEG monitoring	Quarterly W/o seizure correlates, routine EEG is not indicated.
Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).	Quarterly
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, need for adaptive devises
Development	Monitor developmental progress & educational needs.
Gastrointestinal	Assessment of feeding Monitor stool frequency. Dietary assessment to maintain adequate nutrition & growth
Growth	Assessment of nutritional status, height, weight, & BMI	Quarterly, then biannually if growth trajectory is satisfactory
Renal function	Eval by pediatric nephrologist	Quarterly if blood tests of renal function are abnormal
Respiratory	Monitor for evidence of aspiration, respiratory insufficiency.	Quarterly
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.	At each visit to hospital

System/Concern

Evaluation

Suggested Frequency of Outpatient Surveillance After Initial Assessment (per treating clinician)

Neurologic status incl possible seizures / subclinical status epilepticus

By pediatric neurologist; to incl EEG & video EEG monitoring

Quarterly
W/o seizure correlates, routine EEG is not indicated.

Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).

Quarterly

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, need for adaptive devises

Development

Monitor developmental progress & educational needs.

Gastrointestinal

Assessment of feeding
Monitor stool frequency.
Dietary assessment to maintain adequate nutrition & growth

Growth

Assessment of nutritional status, height, weight, & BMI

Quarterly, then biannually if growth trajectory is satisfactory

Renal function

Eval by pediatric nephrologist

Quarterly if blood tests of renal function are abnormal

Respiratory

Monitor for evidence of aspiration, respiratory insufficiency.

Quarterly

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

At each visit to hospital

From: RRM2B Mitochondrial DNA Maintenance Defects

GeneReviews^® [Internet].

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

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