Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 3

System/ConcernEvaluationComment
Neurologic Neurologist assess for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades & smooth pursuit)Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS). 1
UMN &/or LMN dysfunction (weakness, spasticity, Babinski signs, hyperreflexia, amyotrophy, fasciculations)
  • Brain MRI &/or spinal cord MRI may be indicated to rule out coincident pathologies.
  • Consider referral to neuromuscular clinic.
Extrapyramidal features (e.g., dystonia, parkinsonism)
Consider referral to OT/PT / rehab specialist.To assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, PT/OT
Eyes Complete eye exam
  • Assess best corrected visual acuity; nystagmus, saccades & smooth pursuit; vertical & horizontal gaze limitation; ptosis.
  • Consider referral to ophthalmologist for corrective measures incl prisms &/or surgery.
Speech For those w/dysarthria: speech/language evalConsider referral to speech/language pathologist.
Feeding For those w/frequent choking or severe dysphagia, assess:
  • Nutritional status;
  • Aspiration risk.
Consider involving a gastroenterology / nutrition / feeding team, incl formal swallowing eval.
Respiratory For those w/respiratory symptoms or muscular involvement: obtain pulmonary function tests.Consider involving pulmonary specialist / respiratory therapist.
Autonomic
dysfunction 		History of difficulty w/thermoregulation, syncope
Bladder function History of spastic bladder symptoms: urgency, frequency, difficulty voidingReferral to urologist; consider urodynamic eval.
Sleep issues Consider sleep study.For obstructive sleep apnea
Chronic pain Assess location, relationship to sleep or body position, & association w/neuropathy or dystonia.Depending on location & nature of pain, consider EMG or regional MRI to assess cause.
Cognitive/
Psychiatric 		Assess for cognitive dysfunction assoc w/cerebellar cognitive affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation).Consider use of:
  • CCAS scale 2 to evaluate cognitive & emotional involvement;
  • Psychiatrist, psychologist, or neuropsychologist if needed.
Genetic
counseling 		By genetics professionals 3To inform affected individuals & their families re nature, MOI, & implications of SCA3 to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources;
  • Social work involvement for parental support;
  • Home nursing referral.

BARS = Brief Ataxia Rating Scale; CCAS = cerebellar cognitive affective syndrome; ICARS = International Cooperative Ataxia Rating Scale; LMN = lower motor neuron; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuron

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Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Spinocerebellar Ataxia Type 3

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