GTR Home > Conditions/Phenotypes > Tay-Sachs disease, variant AB

Summary

The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869) and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Hypertonia
  • Apathy
  • Paralysis
  • Poor head control
  • GM2-ganglioside accumulation
  • Seizure
  • Aspiration
  • Blindness
  • Dementia
  • Muscular hypotonia
  • Global developmental delay
  • Exaggerated startle response
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