Table 7.

Recommended Surveillance for Individuals with SYNE1 Deficient Cerebellar Ataxia

System/ConcernEvaluationFrequency
Neurologic
  • Neurologic assessment for progression of ataxia; UMN or LMN signs
  • Monitor ataxia progression w/standardized scale (SARA, ICARS, or BARS) 1
Annually; more often for an acute exacerbation
Physiatry, OT/PT assessment of mobility, self-help skills as they relate to ataxia, spasticity, weakness
Dysarthria Need for alternative communication method or speech therapyPer symptom progression
Dysphagia Assess aspiration risk & feeding methods
Cognitive/
Psychiatric 		Evaluate mood, signs of psychosis, cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.Per symptom progression & development of psychiatric symptoms

BARS = Brief Ataxia Rating Scale; ICARS = International Co-operative Ataxia Rating Scale; LMN = lower motor neuron; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuron

1.

From: SYNE1 Deficiency

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