GM1 Gangliosidosis Type II (Juvenile Type) -CEW

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====== GM1 Gangliosidosis  Type II (Juvenile Type) ======
(Derry Disease)

==== Main Features ====
  * Slowly progressive generalized neurodegneration and mild skeletal changes
  * Locomotor ataxia usually first sign, followed by progressive psychomotor deterioration and seizures
  * Decerebrate and rigid by end of second year of life
  * Onset 7 months to 3 years
  * Death by age 3-10 years
==== Eye Findings ====
  * Nystagmus
  * Esotropia
  * [[cherry_red_spot|Cherry Red Spot]]
  * Optic Atrophy
==== Etiology ====
  * Defect in ß-galactosidase-1- missing B and C isoenzymes
  * Autosomal recessive
  * Gene map locus: 3p21.33
==== References ====
  * Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
  * [[https://www.omim.org/entry/230600|OMIM]] #230600

{{tag>syndrome}}

syndrome