Table 11.

Treatment of Manifestations in Individuals with Type I (Infantile) GM1 Gangliosidosis

Manifestation/
Concern		TreatmentConsiderations/Other
Seizures Standardized treatment w/ASM by experienced neurologist
  • Seizures are often progressive & refractory.
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Complete seizure control is seldom achieved & requires balancing w/sedative side effects of ASMs.
  • Education of parents/caregivers 1
Abnormal
tone /
Mobility
issues 		Orthopedics / physical medicine & rehab / PT & OTConsider need for position & mobility devices.
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Maintenance
of adequate
hydration
& calories
for growth 		Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.
  • Will ↑ longevity but not preserve developmental function
  • Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Bowel
dysfunction 		Monitor for constipation.Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Aspiration
risks /
Excess
secretion 		Gastrostomy tube, vibrator vest, improved pulmonary toilet, suppression of saliva productionWill ↓ aspiration & improve longevity but not developmental function
Cardiac
involvement 		Standard care as directed by pediatric cardiologist
Anesthetic
risk
  • Preoperative eval incl history of complications w/previous anesthetics & any ongoing issues w/airway obstruction, heart, & respiratory function
  • Fiber-optic bronchoscopy & smaller-than-expected endotracheal tubes may be required.
  • Review flexion/extension radiographs of lateral cervical spine prior to anesthesia.
  • Cervical spine stabilization & care by experienced pediatric anesthesiologist whenever possible
Family
support 		In-home nursing & respite careSupport for health & quality of life of caregivers & sibs

ASM = anti-seizure medication; DD/ID = developmental delay / intellectual disability; 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: GLB1-Related Disorders

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