GM2 Gangliosidosis Type I (Tay-Sachs disease) -CEW

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====== GM2 Gangliosidosis Type I (Tay-Sachs disease) ======

==== Main Features ====

  * Child becomes apathetic, hypotonic and sensitive to sound (abnormal startle reflex)
  * Progressive neurological deterioration and seizures followed by paralysis, dementia and blindness
  * Death usually by 24 to 30 months of age
==== Eye Findings ====
  * [[cherry_red_spot|Cherry red spot]] by 6 months of age- can disappear as ganglion cells die
  * Decreased vision by 12-18 months of age
  * Nystagmus
  * Optic atrophy
  * Narrowing of retinal vessels
==== Etiology ====
  * Hexosaminidaze A isoenzyme deficiency
  * Gene map locus: 15q23-q24
  * Autosomal recessive
  * Carrier 1:300 in non Jews and 1:30-40 in Jews of European extraction in US and Canada
  * Incidence 1:4000 in Ashkenazi Jews

==== References ====
  * Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
  * [[https://www.omim.org/entry/272800|OMIM]] #272800

{{tag>syndrome}}

syndrome