Table 6.

Recommended Surveillance for Individuals with Acute Infantile GM2 Activator Deficiency

System/ConcernEvaluationFrequency
Neurologic decline Eval by pediatric neurologist w/attention to seizure severity & response to ASMEvery 3-6 mos
Abnormal tone /
Impaired mobility
  • OT/PT assessment of ADL & need for splinting for contractures/scoliosis
  • Durable medical equipment for mobility
At each visit
Nutrition/feeding By feeding team re aspiration risk / nutrition needs
Respiratory Assess need for airway hygiene.
Family support
& resources 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).As needed

ADL = activities of daily living; ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

From: GM2 Activator Deficiency

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