Tay-Sachs disease
MeSH: D013661ORPHA: 845
Overview
Human medical condition
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, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessProgressive spasticitySkeletal muscle atrophyGM2-ganglioside accumulationAbnormality of glycolipid metabolismAbnormal circulating enzyme concentration or activityVisual impairmentAtypical behaviorShort attention spanDysarthriaGait disturbanceHyperreflexiaDysphagiaGliosisPostural instabilityIncoordinationClumsinessFrequent fallsDevelopmental regressionFasciculationsDistal muscle weaknessMuscle spasmDifficulty climbing stairsPoor fine motor coordinationHypointensity of cerebral white matter on MRILower limb muscle weaknessQuadriceps muscle atrophyCherry red spot of the maculaAspiration pneumoniaAbnormal thalamic MRI signal intensityAbnormality of eye movementBlindnessOptic atrophyPsychosisDepressionAnxietySeizureCerebellar atrophyGeneralized hypotoniaDysmetriaDystoniaMyoclonusTremorAbsent speechLimited elbow extensionVentriculomegalyExaggerated startle responseGlobal brain atrophyDroolingMemory impairmentFocal impaired awareness seizureInability to walkLimited knee extensionFunctional motor deficitProgressive macrocephalyDistal upper limb muscle weaknessSpeech articulation difficultiesTypical absence seizureAnkle clonusGastrostomy tube feeding in infancyLaryngeal dystoniaHip flexor weaknessManiaHearing impairmentPrecocious pubertyIncreased serum beta-hexosaminidaseDecerebrate rigidityVegetative state
Classification & Codes
MeSH Code
D013661Orphanet Code
ORPHA:845Tay-Sachs disease
| MeSH | D013661 |
| Orphanet | ORPHA:845 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO