Table 7.

Recommended Evaluations Following Initial Diagnosis of RRM2B-MDMD Progressive External Ophthalmoplegia

System/ConcernEvaluationComment
Eyes Complete ophthalmologic exam
  • Assess best corrected visual acuity; nystagmus, saccades & smooth pursuit; vertical & horizontal gaze limitation; ptosis.
  • Consider need for corrective measures incl prisms &/or surgery
Neurologic Neurologist: assess for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades & smooth pursuit).Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS). 1
Assess for myopathy (weakness, sensory loss)
Speech For those w/dysarthria: speech/language evalConsider referral to speech & language pathologist.
Bulbar
dysfunction 		For those w/frequent choking or severe dysphagia, assess:
  • Nutritional status;
  • Aspiration risk.
Consider involving a gastroenterology/nutrition/feeding team, incl formal swallowing eval.
Mobility/ADL Orthopedics / physical medicine & rehab / PT evalTo incl assessment of:
  • Muscle tone; joint range of motion; posture; mobility; strength, coordination & endurance; pain; bedsores
  • Need for adaptive devices
  • Footwear needs
  • PT needs
OTTo assess
  • Small motor function (e.g., hands, feet, face, fingers, toes)
  • ADL
Cognitive/
Psychiatric 		Assess for cognitive dysfunction assoc w/cerebellar cognitive affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation)Consider use of:
  • CCAS Scale to evaluate cognitive & emotional involvement;
  • Psychiatrist, psychologist, neuropsychologist if needed.
Gastrointestinal
dysmotility 		Gastroenterology follow up
  • Measure height & weight.
  • Calculate BMI.
  • Serial weight measurement
Sensorineural
hearing loss 		Complete audiologic exam incl hearing test, BAEPConsider hearing aids, cochlear implant
Speech &
language 		Eval by speech & language pathologist
Endocrinopathy Eval by endocrinologistFor diabetes mellitus, hypothyroidism, hypoparathyroidism, hypogonadism
Genetic Counseling By healthcare practitioner w/experience in both genetic counseling & mitochondrial diseaseTo inform affected persons & their family re nature, MOI, & implications of RRM2B-MDMD to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; BAEP = brain stem auditory evoked potentials; BARS = Brief Ataxia Rating Scale; BMI = body mass index; CCAS = cerebellar cognitive affective syndrome; ICARS = International Co-operative Ataxia Rating Scale; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia

1.

From: RRM2B Mitochondrial DNA Maintenance Defects

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