Table 5.

Treatment of Manifestations in Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Manifestation/ConcernTreatmentConsiderations/Other
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Valproate may also be beneficial for behavioral problems.
  • Education of parents/caregivers 1
Extraocular muscle
involvement 		Standard treatment(s) per ophthalmologist
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT
  • Regular physiotherapy to maximize mobility & ↓ risk for later orthopedic complications (e.g., hand & foot contractures, scoliosis)
  • Walking aids incl canes or walkers when appropriate
  • Use of orthoses for upper & lower limbs as needed
  • Durable medical equipment & positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers)
  • Disability parking placard for caregivers
Scoliosis OrthopedicsDepending on degree of severity, scoliosis usually requires surgical correction.
Pulmonary medicineIntervention per standard care
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Psychotic episodes Psychiatric evalLow-dose neuroleptics may be useful.
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.

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

1.

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

From: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

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