Table 6.

GAA-FGF14-Related Ataxia: Recommended Surveillance

System/ConcernEvaluationFrequency
Cerebellar ataxia
  • Neurologic eval to assess progression & need for pharmacotherapy
  • Monitor ataxia progression w/standardized scale (SARA). 1
Annually; more often for acute exacerbation
PT eval re mobility, need for durable equipmentPer treating PT
OT eval re ADL, need for safety modificationsPer treating OT
Dysarthria Eval re need for speech therapy or alternative communication methodPer symptom progression
Dysphagia Assessment of nutrition, aspiration risk, & feeding methods
Diplopia Eval by ophthalmologist for prisms
Hearing loss Eval by audiologist for hearing aids
Family/Community Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

OT = occupational therapy/therapist; PT = physical therapy/therapist; SARA = Scale for the Assessment and Rating of Ataxia

1.

From: GAA-FGF14-Related Ataxia

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