Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	Use SARA to establish baseline.
Head MRI	Initial imaging to establish extent of cerebellar atrophy at disease presentation
Feeding eval	To evaluate for bulbar involvement that may require intervention (e.g., adjustment to dietary consistency to improve safe swallow)
Speech & language therapy eval	If dysarthria is atypical or severe enough to cause communication problems
PT & OT eval	To evaluate mobility, activities of daily living, & need for adaptive devices
Peripheral nervous system	Nerve conduction studies	Nerve conduction studies recommended to exclude a coexisting neuropathy that may require further monitoring
Ophthalmologic	Ophthalmologic eval	To evaluate eye movement & for diplopia
Other	Consultation w/clinical geneticist &/or genetic counselor

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

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