Table 6.

Supportive Treatment of Neurologic Manifestations in Individuals with SCARB2-Related Action Myoclonus – Renal Failure Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Myoclonus Pharmacologic Valproic acid1st drug of choice; diminishes myoclonus & frequency of generalized seizures
ClonazepamFDA approved for treatment of myoclonic seizures; used as add-on therapy 1
Other medicationsSee Agents/Circumstances to Avoid; refer to epileptologist for personalized mgmt.
High-dose piracetamUseful in treatment of myoclonus 2
N-acetylcysteineVariable results 3
Vagus nerve stimulationReduces seizures & significantly improves cerebellar function on neurologic exam 4
Other Avoiding extreme stimuli (lights, noises, stress)
Seizures Anti-seizure medicationFollow standard measures for prevention of aspiration pneumonia & SUDEP
ADL PT/OT
  • PT (balance exercises, gait training, muscle strengthening) to maintain mobility & function 1
  • OT to optimize ADL (incl use of adaptive devices, e.g., weighted eating utensils & dressing hooks)
  • Adaptive devices to maintain/improve independence in mobility (e.g., canes, walkers, motorized chairs)
  • Home adaptations to prevent falls (e.g., grab bars, raised toilet seats) & improve mobility (e.g., ramps to accommodate motorized chairs)
Developmental plateau /
Cognitive decline 		See Developmental Delay / Intellectual Disability / Educational Issues.Persons w/cognitive decline may benefit from the same resources available to those w/intellectual disability.
Dysarthria Speech-language therapyConsider alternative communication methods as needed (e.g., writing pads & digital devices).
Dysphagia Feeding therapy programs to improve nutrition & reduce aspiration risk
  • Video esophagram may help define best food consistency.
  • Education re strategies to mitigate aspiration
  • PEG tube in advanced cases
Hearing loss Per audiologistHearing aids may be of benefit.
SRNS Medical mgmt per treating nephrologistRenal replacement therapy (dialysis, kidney transplantation) if refractory to medical mgmt
Psychiatric comorbidity Per psychiatrist & psychotherapistTreatment needs to be individualized.
Weight Nutrition assessment
  • Consider nutritional & vitamin supplementation to meet dietary needs.
  • Avoid obesity, which can exacerbate difficulties w/ambulation & mobility.
Family support
& resources
  • Social work involvement for parental/caregiver support
  • Home nursing referral
As needed

ADL = activities of daily living; OT = occupational therapy; PEG = percutaneous endoscopic gastrostomy; PT = physical therapy; SRNS = steroid-resistant nephrotic syndrome; SUDEP = sudden unexpected death in epilepsy

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From: SCARB2-Related Action Myoclonus – Renal Failure Syndrome

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