Tay-Sachs
Fatal infantile disorder
Tay-Sachs is a rare inherited disorder in which the body lacks an enzyme needed to break down fatty substances in nerve cells.
The buildup destroys brain and spinal cord cells, causing developmental regression, seizures, blindness, and typically death in early childhood.
It occurs most frequently among Ashkenazi Jews and certain other populations.
Genetic testing can identify Tay-Sachs carriers.
Masked unless paired identically
- mutationPermanent DNA alteration
- chromosomeDNA strand carrying genes
- carrierOne that transports
- alleleGene variant at one locus
inheritance · heterozygote · gene · hereditary · dominant · genotype · phenotype · Mendelian
Protein that hastens reactions
- neurodegenerationProgressive loss of neurons
- seizuresInvoluntary convulsions or takings
- blindnessAbsence of vision
- hypotoniaDecreased muscle tone condition
macrocephaly · spasticity · dementia · ataxia · dysphagia · infantile · juvenile · prognosis
Jews of European descent
- JewishOf a Semitic people
- French-CanadianFrancophone North American identity
- CajunLouisiana's French descendants
- IrishOf the Emerald Isle
endogamy · consanguinity · ethnic · ancestry · prevalence · incidence · diaspora · Sephardic
Prenatal diagnostic fluid extraction
- prenatalBefore birth
- newbornInfant just delivered
- genetic counselingGuidance on inherited conditions
- blood testDiagnostic fluid analysis
diagnosis · prevention · family planning · at-risk · reproductive
Medical DNA modification treatment
- clinical trialHuman subject research experiment
- cureTreatment that heals
- treatmentCare for an ailment
- palliativeOffering relief, not remedy
experimental · stem cell · biomarker · therapeutic · pharmaceutical
recessive
Masked unless paired identically
- mutationPermanent DNA alteration
- chromosomeDNA strand carrying genes
- carrierOne that transports
allele · inheritance · heterozygote · gene · hereditary · dominant · genotype · phenotype · Mendelian · homozygous
enzyme
Protein that hastens reactions
- neurodegenerationProgressive loss of neurons
- seizuresInvoluntary convulsions or takings
- blindnessAbsence of vision
hypotonia · macrocephaly · spasticity · dementia · ataxia · dysphagia · infantile · juvenile · prognosis
Ashkenazi
Jews of European descent
- JewishOf a Semitic people
- French-CanadianFrancophone North American identity
- CajunLouisiana's French descendants
Irish · endogamy · consanguinity · ethnic · ancestry · prevalence · incidence · diaspora · Sephardic · bottleneck
amniocentesis
Prenatal diagnostic fluid extraction
- prenatalBefore birth
- newbornInfant just delivered
- genetic counselingGuidance on inherited conditions
blood test · diagnosis · prevention · family planning · at-risk · reproductive
gene therapy
Medical DNA modification treatment
- clinical trialHuman subject research experiment
- cureTreatment that heals
- treatmentCare for an ailment
palliative · experimental · stem cell · biomarker · therapeutic · pharmaceutical
- Medical EponymsAlzheimer's, Parkinson's, Crohn's disease, Down syndrome, Huntington's disease
- Genetic Conditionscystic fibrosis, sickle cell, hemophilia, Huntington's disease, Huntington's
- Genetic Disorderscystic fibrosis, hemophilia, sickle cell disease, sickle cell anemia, sickle cell
- Genetic Riskgenetic marker, genetic testing, genetic counseling, gene mutation, predisposition
- Rare Diseasesprogeria, Krabbe disease, PKU, tuberous sclerosis, neurofibromatosis
- Genetic SyndromesDown syndrome, fragile X syndrome, DiGeorge syndrome, BRCA1, neurofibromatosis
Tay-SachsPKU
Inherited amino acid disorder
Wilson's disease · hypothyroidism · hemophilia · type 1 diabetes · bacterial infection
Tay-Sachscolor blindness
Inability to perceive hues
lactose intolerance · Gilbert's syndrome · childhood leukemia · asthma · juvenile diabetes
Tay-Sachssickle cell disease
Hereditary anemia with misshapen erythrocytes
sickle cell anemia · thalassemia · cystic fibrosis · Tay-Sachs