Table 4.

Canavan Disease: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Neurologic Neurologic evalConsider Botox® injections to relieve spasticity.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none have been demonstrated specifically effective for this disorder.
  • Education of parents/caregivers 1
Neuromuscular Orthopedics / physical medicine & rehab / PT & OT
  • PT to minimize contractures & optimize abilities & seating posture
  • Consider need for durable medical equipment (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers) & disability parking placard.
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
  • Low threshold for clinical feeding eval when showing clinical signs or symptoms of dysphagia
  • Radiographic swallowing study should be performed if there is diagnostic uncertainty &/or as recommended by speech-language pathologist to clarify tolerated consistencies.
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics for persons w/atypical Canavan disease.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Canavan Disease

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