A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
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Huntington disease and related disorders
MONDO:0000167
agenesis of the corpus callosum with peripheral neuropathy
MONDO:0000902
striatonigral degeneration
MONDO:0003122
angioid streaks of choroid
MONDO:0004882
amyotrophic lateral sclerosis-parkinsonism-dementia complex
MONDO:0007104
inherited Creutzfeldt-Jakob disease
MONDO:0007403