Table 3.

Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Eyes Ophthalmologic evalTo assess for optic atrophy & visual acuity
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • Incl eval of aspiration risk & nutritional status
  • Consider eval for gastric tube placement in patients w/dysphagia &/or aspiration risk.
Musculoskeletal OT & PT assessmentsTo assess effect of mvmt disorder on activities of daily living
Neurologic Brain MRI
  • Medication management for dystonia
  • Rehab w/therapies & equipment needs assessment for dystonia, chorea, &/or ataxia
Development Developmental assessment
  • Incl eval of motor, speech/language, general cognitive, & vocational skills
  • Speech therapy & augmentative communication consultation for dysarthria
Neuropsychological Assessment of cognitive function
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorIncl genetic counseling

OT = occupational therapy; PT = physical therapy

From: MECR-Related Neurologic Disorder

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