Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 1

System/ConcernEvaluationComment
Neurologic Neurologic exam to assess gait, bulbar & ocular manifestations, cerebellar manifestations, & other neurologic features
  • Video esophagram in those w/dysphagia
  • Oral feeding assessment by speech or feeding therapist
To determine the consistency of food that is least likely to trigger aspiration
Ophthalmologic Ophthalmologic exam for abnormal ocular movements, optic nerve atrophy, & macular degeneration
Cognition Cognitive assessment
Pain Assess for pain secondary to spasms/cramps.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SCA1 to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

MOI = mode of inheritance; SCA1 = spinocerebellar ataxia type 1

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Spinocerebellar Ataxia Type 1

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