Table 6.

Recommended Evaluations Following Initial Diagnosis of RRM2B-MDMD, Encephalomyopathic Form

System/ConcernEvaluationComment
Constitutional Measure length, weight, head circumference.Plot measurements serially on growth charts.
Neuromuscular By pediatric neurologist
  • Assess functional neurologic status.
  • EEG & brain imaging if seizures suspected
Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Need for adaptive devices
Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Respiratory Referral to pediatric pulmonologist for children w/evidence of ↓ respiratory functionAssessment may incl consideration of tracheostomy & artificial ventilation. (See Ethics consultation.)
Renal Referral to pediatric nephrologistTo evaluate for proximal renal tubulopathy
GI/Feeding

Gastroenterology / nutrition / feeding team eval

  • To incl eval for gastrointestinal dysmotility, aspiration risk & nutritional status
  • Consider eval for gastric tube placement in persons w/dysphagia &/or aspiration risk.
Hearing Audiologic evalFor sensorineural hearing loss
Eyes
  • Bedside fundoscopy
  • Visual acuity testing
  • Ptosis & CPEO assessment
  • Early ophthalmology involvement
  • Clinical photographs for comparison of ptosis
Cardiovascular Basic EKG if any clinical evidence of cardiac diseaseRoutine echocardiography not clinically indicated
Genetic
Counseling 		By healthcare practitioner w/experience in both genetic counseling & mitochondrial diseaseTo inform family re nature, MOI & implications of RRM2B-MDMD in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
Ethics
consultation 		Clinical ethics services
  • Assess healthcare decisions in the context of the best interest of the child & values & preferences of the family.
  • For difficult life-prolonging decisions or for clarification of treatment options, consider further consultation w/independent clinical teams. 1

From: RRM2B Mitochondrial DNA Maintenance Defects

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