Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic assessment for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)	Use standardized scale (SARA, ICARS, or BARS) to establish baseline for ataxia. ¹
Physical medicine, OT/PT assessment	To incl assessment of gross motor & fine motor skills, ambulation
Speech	Speech/language eval for those w/dysarthria	If dysarthria is atypical or severe enough to cause communication problems
Feeding	If frequent choking or severe dysphagia: assess nutritional status & aspiration risk.	Consider placement of feeding tube for severe cases to ↓ risk of aspiration.
Psychiatric/ Behavioral	Neuropsychiatric eval for those w/problems in learning &/or social adaptation	No evidence that pharmacologic therapy has been required or effective in patients w/known pathogenic variants
Genetic counseling	By genetics professionals ²	To inform patients & families re nature, MOI, & implications of SCA13 to facilitate medical & personal decision making
Family support/ resources	Social work	Assess: Use of community resources & support/advocacy organizations (e.g., Parent to Parent); Need for social work involvement for caregiver support.

System/Concern

Evaluation

Comment

Neurologic

Neurologic assessment for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)

Use standardized scale (SARA, ICARS, or BARS) to establish baseline for ataxia. ¹

Physical medicine, OT/PT assessment

To incl assessment of gross motor & fine motor skills, ambulation

Speech

Speech/language eval for those w/dysarthria

If dysarthria is atypical or severe enough to cause communication problems

Feeding

If frequent choking or severe dysphagia: assess nutritional status & aspiration risk.

Consider placement of feeding tube for severe cases to ↓ risk of aspiration.

Psychiatric/
Behavioral

Neuropsychiatric eval for those w/problems in learning &/or social adaptation

No evidence that pharmacologic therapy has been required or effective in patients w/known pathogenic variants

Genetic
counseling

By genetics professionals ²

To inform patients & families re nature, MOI, & implications of SCA13 to facilitate medical & personal decision making

Family support/
resources

Social work

Assess:

Use of community resources & support/advocacy organizations (e.g., Parent to Parent);
Need for social work involvement for caregiver support.

From: Spinocerebellar Ataxia Type 13

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

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