Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with a Hereditary Ataxia

SystemEvaluationComment
Neurologic Assessment by neurologist for:
  • Cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)
  • UMN &/or LMN dysfunction (weakness, spasticity, Babinski signs, hyperreflexia, amyotrophy, fasciculations)
  • Vibration loss or polyneuropathy based on clinical findings
  • Use standardized scale to establish baseline for ataxia (SARA). 1
  • Consider electrophysiologic studies (EMG & NCS) to detect neurogenic changes or signs of neuropathy.
  • Brain MRI to evaluate presence & severity of cerebellar atrophy
Refer to neuromuscular clinic (OT / PT / rehab specialist).To assess gross motor & fine motor skills, ambulation, & need for adaptive devices & PT
Speech For those w/dysarthria &/or other speech-language difficultiesRefer to SLP.
Feeding For those w/frequent choking or severe dysphagia, assess nutritional status & aspiration risk.Consider involving a gastroenterology/nutrition/feeding team.
Respiratory For those w/respiratory symptoms or muscular involvement, obtain pulmonary function tests & sleep study.Consider involving pulmonary specialist & sleep specialist.
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.
Musculoskeletal Assess for skeletal involvement, mainly scoliosis & pes cavus.Consider involving orthopedic specialist or orthotics specialist.
Genetic counseling By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of their diagnosis to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

CCAS = cerebellar cognitive affective syndrome; EMG = electromyogram; LMN = lower motor neuron; NCS = nerve conduction study; OT = occupational therapy/therapist; PT = physical therapy/therapist; SARA = Scale for the Assessment and Rating of Ataxia; SLP = speech-language pathologist; UMN = upper motor neuron

1.
2.
3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Hereditary Ataxia Overview

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