Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with SCARB2-Related Action Myoclonus – Renal Failure Syndrome

System/ConcernEvaluationComment
Neurologic Neurologist assess: myoclonus incl myoclonus w/action, in response to stimuli, & at restUse standardized UMRS.
Seizure type & frequencyObtain baseline EEG.
Cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)Use standardized scale to establish baseline for ataxia (BARS, ICARS, or SARA).
Sensorimotor involvementNCV, EMG as needed
Musculoskeletal/ADL By physical medicine & rehab / OT & PTTo assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, need for ongoing PT/OT
Hearing Audiogram & BAEPAssess for clinical or subclinical SNHL.
Dysarthria Speech-language evalConsider referral to speech-language pathologist.
Ophthalmologic involvement Complete eye examIncl extraocular movement
Cognitive NeuropsychologistCognitive eval to establish baseline
Psychiatric/Emotional PsychiatristEvaluate as needed for depression & supportive therapy.
Development / School performance Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for special education
SRNS Referral to nephrologist
  • Serum creatinine/BUN; urine protein/creatinine; renal ultrasound exam
  • May require kidney biopsy.
Poor weight gain Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SCARB2-AMRF to facilitate medical & personal decision making
Family support
& resources 		Assess need for: To facilitate peer support for affected persons & their families
Ethics consultation Clinical ethics servicesAssess health care decisions in the context of the best interest of the child & the values & preferences of the family.

ADL = activities of daily living; BAEP = brain stem auditory evoked potentials; BARS = Brief Ataxia Rating Scale; BUN = blood urea nitrogen; ICARS = International Cooperative Ataxia Rating Scale; EMG = electromyogram; MOI = mode of inheritance; NCV = nerve conduction velocities; OT = occupational therapist/therapy; PT = physical therapist/therapy; SARA = Scale for the Assessment and Rating of Ataxia; SCARB2-AMRF = SCARB2-related action myoclonus – renal failure syndrome; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome; UMRS = Unified Myoclonus Rating Scale

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SCARB2-Related Action Myoclonus – Renal Failure Syndrome

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