Table 4.

Recommended Evaluations Following Initial Diagnosis of SCA7: Adolescent or Adult Onset

System/ConcernEvaluationComment
Neurologic Neurologist assessment 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)Since most exhibit some corticospinal tract involvement, comprehensive assessment of motor & sensory function recommended for all affected persons
Refer to neuromuscular clinic (OT/PT / rehab specialist).Assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, PT, &OT.
Ophthalmologic
involvement 		Complete eye examIncl:
  • BCVA
  • Extraocular movement
  • Refractive error
  • Color vision testing
  • Full-field ERG
  • Spectral-domain OCT
Speech For those w/dysarthria: speech/language evalConsider involving certified practitioner of speech/language pathology.
Feeding For those w/frequent choking or severe dysphagia, assess:
  • Nutritional status;
  • Aspiration risk.
Consider involving gastroenterology/nutrition/feeding team.
Respiratory For those w/respiratory symptoms or muscular involvement: obtain pulmonary function tests.Consider involving pulmonary specialist / respiratory therapist.
Bladder
function 		History of spastic bladder symptoms: urgency, frequency, difficulty voiding
  • Referral to urologist
  • Consider urodynamic eval.
Restless legs
syndrome 		Obtain comprehensive history w/emphasis on triggering & relieving factors.Consider referral to specialist w/experience in caring for individuals w/SCA7.
Chronic pain A comprehensive history & physical & neurologic exam must be performed.Consider referral to specialist (e.g., pain clinic or pain service).
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, neuropsychologist if needed.
Family support
& resources 		Consider individual’s disease severity & ability to receive regular care & support from family.Assess need for:
  • Community or online resources;
  • Social work involvement for caregiver support;
  • Home nursing referral.
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of SCA7 to facilitate medical & personal decision making

BARS = Brief Ataxia Rating Scale; BCVA = best-corrected visual acuity; CCAS = cerebellar cognitive affective syndrome; ERG = electroretinogram; ICARS = International Co-operative Ataxia Rating Scale; LMN = lower motor neuron; MOI = mode of inheritance; OCT = optical coherence tomography; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuron

1.
2.
3.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Spinocerebellar Ataxia Type 7

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.