Tay-Sachs disease
Fatal infant neurodegeneration
Tay-Sachs disease is a fatal genetic disorder in which the nervous system progressively deteriorates.
It results from inheriting a defective gene from both parents and primarily affects infants, who typically appear healthy at birth but lose motor function and mental abilities within months.
The disease is most prevalent among Ashkenazi Jewish populations.
There is no cure.
Permanent DNA alteration
- genetic counselingGuidance on inherited conditions
- alleleGene variant at one locus
- genotypeOrganism's complete allele set
- DNA testingAnalyzing hereditary material
prenatal diagnosis · amniocentesis · genetic predisposition · heritable · French Canadian · Cajun · genetic marker
Involuntary convulsions or takings
- hypotoniaDecreased muscle tone condition
- startle responseInvoluntary reaction to surprise
- blindnessAbsence of vision
- hearing lossReduced ability to perceive sound
cognitive decline · muscle atrophy · spasticity · neurodegeneration · feeding difficulties · macrocephaly · irritability
Causing death or ruin
- incurableCannot be healed
- terminalAt the endpoint
- progressiveFavoring reform and innovation
- palliative careRelief-focused medicine for illness
Ailment with few patients
- French CanadianFrancophone from Canada
- CajunLouisiana's French descendants
- IrishOf the Emerald Isle
- genetic driftRandom allele frequency change
mutation
Permanent DNA alteration
- genetic counselingGuidance on inherited conditions
- alleleGene variant at one locus
- genotypeOrganism's complete allele set
DNA testing · prenatal diagnosis · amniocentesis · genetic predisposition · heritable · French Canadian · Cajun · genetic marker
seizures
Involuntary convulsions or takings
- hypotoniaDecreased muscle tone condition
- startle responseInvoluntary reaction to surprise
- blindnessAbsence of vision
hearing loss · cognitive decline · muscle atrophy · spasticity · neurodegeneration · feeding difficulties · macrocephaly · irritability
fatal
Causing death or ruin
- incurableCannot be healed
- terminalAt the endpoint
- progressiveFavoring reform and innovation
rare disease
Ailment with few patients
- French CanadianFrancophone from Canada
- CajunLouisiana's French descendants
- IrishOf the Emerald Isle
metabolic disorder
Impaired cellular chemical processing
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- pediatric neurologyepilepsy, seizures, cerebral palsy, seizure, developmental delay
- Genetic SyndromesDown syndrome, fragile X syndrome, DiGeorge syndrome, BRCA1, neurofibromatosis
- Lysosomeslysosome, autophagy, Tay-Sachs, Niemann-Pick disease
- Metabolic DisordersPKU, Tay-Sachs, Niemann-Pick disease, Krabbe disease, G6PD deficiency
- storage diseasesNiemann-Pick disease, Krabbe disease
Tay-Sachs diseasebacterial infections
Illnesses caused by germs
strep throat · Wilson's disease · hemochromatosis · cystic fibrosis
Tay-Sachs diseaseHuntington's disease
Inherited fatal neurodegenerative condition
Alzheimer's disease · Parkinson's disease · adult-onset diabetes · ALS
Tay-Sachs diseasehealth
Condition of body, mind
neurological health · perfect health · wellness · robust health · vigor