Sandhoff disease

info · Genetic · ICD-10: E75.01

A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.

Signs and symptoms

Exaggerated startle response
Cherry red spot of the macula
Hyperreflexia
Developmental regression
Reduced beta-hexosaminidase B activity
Myoclonic seizure
Orthostatic hypotension
Abnormal glycosphingolipid metabolism
Impaired temperature sensation
Urinary incontinence

Also known as: Sandhoff Jatzkewitz disease