Table 5.

Treatment of Manifestations in Individuals with GAN-Related Neurodegeneration

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Cognitive decline 		See Developmental Delay / Intellectual Disability Management Issues.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Motor disability &
ADL 		Physical medicine & rehab / PT / OT eval
  • Consider adaptive devices to maintain/improve independence in mobility (e.g., canes, walkers, ramps to accommodate motorized chairs), feeding (e.g., weighted eating utensils), dressing (e.g., dressing hooks).
  • PT (balance exercises, gait training, muscle strengthening) to maintain mobility & function
  • OT to optimize ADL
  • Home adaptations to prevent falls (e.g., grab bars, raised toilet seats)
See also CMT Hereditary Neuropathy Overview.
Orthopedics

Surgery as required for foot deformities in those who are ambulatory

Poor weight gain / FTT Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.

Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia

Dysarthria /
Language delay 		By speech-language pathologist

Consider alternative communication methods as needed (e.g., writing pads & digital devices).

Eye involvement Optic atrophy Correction of refractive errors
  • Evaluate for visual aids.
  • Community vision services through Early Intervention or School District
Diplopia Surgery

ADL = activities of daily living; ASM = anti-seizure medication; FTT = failure to thrive; 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: GAN-Related Neurodegeneration

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