Table 7.

Recommended Surveillance for Individuals with SCARB2-Related Action Myoclonus – Renal Failure Syndrome

System/ConcernEvaluationFrequency
Myoclonus Severity of myoclonus using UMRSAt least annually
Seizures Seizure type & frequency
Cerebellar involvement Clinical evalPer symptom progression
Sensorimotor nerve involvement EMG, neurologic examAs needed based on clinical findings
Hearing Audiogram & BAEPAnnually
Dysarthria Assess need for alternative communication method or speech therapy.Per symptom progression
Dysphagia Assess aspiration risk & feeding methods.
Weight /
Nutritional status
  • Monitor BMI.
  • Consult a nutritionist.
  • High-calorie supplementation
ADL Clinical assessment to evaluate rehab planAt least annually
School performance Interview
Cognitive/
Psychiatric 		Evaluate mood, signs of psychosis, & cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.Per symptom progression & development of psychiatric symptoms
Renal involvement For those w/known renal disease:
  • Urine protein/creatinine
  • Nephrology follow up
Per treating nephrologist
For those w/o known renal disease:
  • Measurement of blood pressure
  • Urine protein/creatinine
  • Serum creatinine concentration
Annually
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

ADL = activities of daily living; BAEP = brain stem auditory evoked potentials; EMG = electromyogram; UMRS = Unified Myoclonus Rating Scale

From: SCARB2-Related Action Myoclonus – Renal Failure Syndrome

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