Table 5.

Treatment of Manifestations in Individuals with ADCY5 Dyskinesia

Manifestation/
Concern		TreatmentConsiderations/Other
Chorea &
dyskinesia 		AcetazolamideUp to 30 mg/kg/day
Other potentially beneficial medications
  • Trihexyphenidyl
  • Tetrabenazine
  • Clonazepam
  • Propranolol
  • Levocarnitine
  • Levetirracetam
  • Methylphenidate
Medications that may worsen manifestationsAny of the above
Deep brain stimulationImproves mvmt disorder in some persons refractory to medical treatment 1
Sleep-related
movements 		ClonazepamImproves nocturnal dystonia & axial hypotonia in some
Other potentially beneficial medicationsMelatonin
Dysarthria Speech/language evalConsider alternative communication methods as needed (e.g., writing pads & digital devices).
Oculomotor
involvement 		Per treating ophthalmologist
Musculoskeletal Orthopedics / physical medicine & rehab / PT/OT
  • To help maintain mobility & function
  • Walking aids incl canes or walkers when appropriate
  • Durable medical equipment & positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers)
  • Home adaptations for safety & function
  • Consider disability parking placard for care-givers.
Developmental
delay 		See Developmental Delay / Intellectual Disability Management Issues.
Cognitive
impairment
  • Developmental eval
  • Individualized education plan
To identify degree of disability & provide resources for learning
Psychiatric
manifestations
  • Cognitive behavioral therapy
  • Medication
  • Mental health professionals
Family support/
resources 		Ensure appropriate social work involvement to:
  • Connect families w/local resources, respite, & support;
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
1.

Reported in fewer than 5 persons with overall beneficial effects [Dy et al 2016, Meijer et al 2017]

From: ADCY5 Dyskinesia

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