Tay-Sachs disease AB variant
MeSH: D049290ORPHA: 309246
Overview
extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Tay-Sachs disease AB variant, sourced from HPO and Orphanet clinical annotations.
DystoniaHyperreflexiaCerebral atrophyNeurodegenerationExaggerated startle responseDevelopmental regressionProgressive spastic quadriplegiaShort statureAbnormal pyramidal signAxial hypotoniaHyperacusisCognitive impairmentAbnormal fear-induced behaviorInappropriate behaviorAnxietySeizureChoreaLoss of speechPrimitive reflexPostnatal growth retardationCherry red spot of the maculaAbnormal involuntary eye movementsGlabellar reflexPseudobulbar signsPunctate periventricular T2 hyperintense foci
Classification & Codes
MeSH Code
D049290Orphanet Code
ORPHA:309246Tay-Sachs disease AB variant
| MeSH | D049290 |
| Orphanet | ORPHA:309246 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO