Table 3.

Recommended Evaluations Following Initial Diagnosis of Pelizaeus-Merzbacher-Like Disease 1

Organ SystemEvaluationComment
Eyes OphthalmologyAssessment for optic atrophy & nystagmus
ENT AudiologyAssessment for sensorineural hearing loss
Gastrointestinal Consultation w/gastroenterologistConsideration of swallowing study to assess for swallowing dysfunction & mgmt of constipation & gastroesophageal reflux
Musculoskeletal Referral to an orthopedic surgeon for tone mgmt or orthopedic complications as indicatedExam to assess for evidence of hip dislocation, joint contractures, & scoliosis
Neurologic Consultation w/pediatric neurologistEval of movement disorders, tone, & seizures
Miscellaneous/
Other 		Consultation w/nutritionistAssessment of nutritional status & needs
Consultation w/developmental specialistAssessment of developmental level & needs for supportive therapies
Consultation w/clinical geneticist &/or genetic counselorEval of underlying diagnosis & familial recurrence risk
Consultation w/rehab specialistAssessment of functional disability & equipment needs/adjustments

From: Pelizaeus-Merzbacher-Like Disease 1

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