GTR Home > Conditions/Phenotypes > Tay-Sachs disease

Disease characteristics

Excerpted from the GeneReview: Hexosaminidase A Deficiency
Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis.

Associated genes

Clinical features

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  • Myotonia
  • Splenomegaly
  • EEG abnormalities
  • Hyperreflexia
  • Hypertonia
  • Apathy
  • Poor head control
  • Psychomotor deterioration
  • GM2-ganglioside accumulation
  • Incoordination
  • Recurrent respiratory infections
  • Seizure
  • Aspiration
  • Cherry red spot of the macula
  • Macrocephaly
  • Hearing impairment
  • Blindness
  • Optic atrophy
  • Dementia
  • Muscular hypotonia
  • Hepatomegaly
  • Exaggerated startle response
  • Developmental regression
  • Hemiplegia/hemiparesis
  • Abnormality of movement
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Go to complete MedGen record for Tay-Sachs disease

Clinical resources

Practice guidelines

  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent.

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