II. Epidemiology

  1. Hereditary recessive trait
  2. Jews of eastern European origin

III. Pathophysiology

  1. Inborn error of metabolism
  2. Abnormal metabolism of Neuronal lipids
  3. Results in cerebral atrophy

IV. Symptoms

  1. Insidious onset at about 6 months of age
  2. Healthy infants develop progressive developmental delay

V. Signs

  1. Initial Stages
    1. Decreased motor activity
    2. Flaccidity
    3. Apathy
    4. Inattentiveness
  2. Later Stages
    1. Spasticity
    2. Clonus
    3. Babinski with upgoing toes
    4. Convulsions
    5. Increasing Dementia
  3. Final Stages
    1. Blindness
    2. Idiocy
    3. Retinal cherry red spot of Macular Degeneration

VI. Course

  1. Death occurs in first 3-4 years

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Ontology: Tay-Sachs Disease (C0039373)

Definition (MEDLINEPLUS)

Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.

The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease.

There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.

NIH: National Institute of Neurological Disorders and Stroke

Definition (NCI) A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.
Definition (CSP) autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
Definition (MSH) An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Concepts Disease or Syndrome (T047)
MSH D013661
ICD10 E75.02
SnomedCT 111385000
English G(M2) Gangliosidosis, Type I, Gangliosidosis G(M2), Type I, Tay Sachs disease, GM2 gangliosidosis, type 1, GM<sub>2</sub> gangliosidosis, type 1, Gangliosidosis GM2, Type I, GM2 Gangliosidosis, Type I, GM2 Gangliosidosis, B Variant, Gangliosidosis GM2, B Variant, Tay Sachs Disease, B Variant, Tay-Sachs Disease, B Variant, TAY-SACHS DISEASE, HEXA DEFICIENCY, GM2-GANGLIOSIDOSIS, TYPE I, HEXOSAMINIDASE A DEFICIENCY, GANGLIOSIDOSIS GM 02 B VARIANT, TAY SACHS DIS, GM2 GANGLIOSIDOSIS TYPE I, GM GANGLIOSIDOSIS 02 TYPE I, GANGLIOSIDOSIS GM 02 TYPE I, GANGLIOSIDOSIS GM2 TYPE I, DEFIC DIS HEXOSAMINIDASE A, HEXOSAMINIDASE A DEFIC DIS, hexosaminidase A deficiency, gangliosidosis GM2 type I, B VARIANT GM2-GANGLIOSIDOSIS, Tay-Sachs disease (diagnosis), GM2 gangliosidosis, Deficiency Disease Hexosaminidase A, Hexosaminidase A Deficiency Disease, B Variant GM2 Gangliosidosis, Gangliosidosis GM2 , Type 1, Sphingolipidosis, Tay-Sachs, GM2 Gangliosidosis, Type 1, Sphingolipidosis, Tay Sachs, Tay-Sachs Sphingolipidosis, Tay-Sachs Disease [Disease/Finding], tsd, deficiency hexosaminidase, disease sach tay, disease tay sachs, disease sachs tay, tay sach's disease, diseases sachs tay, diseases tay sachs, disease sach's tay, disease tay sach, tay sachs disease, diseases sachs tays, tay-sachs disease, disease tay-sachs, GM2-Gangliosidosis, Type I, B Variant GM2-Gangliosidosis, B Variant GM2-Gangliosidoses, GM2-Gangliosidosis, B Variant, Type I GM2-Gangliosidosis, Tay-Sachs disease, Severe hexosaminidase A deficiency, TSD, Hexosaminidase A deficiency, GM>2< gangliosidosis, type 1, Tay-Sachs disease (disorder), Sachs-Tay, Sachs, Tay-Sachs, Tay-Sachs Disease, Tay Sachs Disease, Disease, Tay-Sachs
Portuguese Gangliosidose GM2 Variante B, Doença de Tay-Sachs Variante B, Doença da Deficiência da Hexosaminidase A, Doença de Tay-Sachs, Gangliosidose G(M2) Tipo I
Spanish Gangliosidosis GM2 Variante B, Enfermedad de Tay-Sachs Variante B, gangliosidosis GM2, tipo 1, gangliosidosis GM<sub>2</sub>, tipo 1, deficiencia severa de hexosaminidasa A, enfermedad de Tay - Sachs (trastorno), enfermedad de Tay - Sachs, gangliosidosis GM>2<, tipo 1, Enfermedad de Tay-Sachs, Enfermedad por Deficiencia de Hexosaminidasa A, Gangliosidosis G(M2) Tipo I
German Hexaminidase-A-Mangel, Morbus Tay-Sachs, GANGLIOSIDOSE GM 02 TYP I, GM GANGLIOSIDOSE 02 TYP I, GM Gangliosidose 02 Typ HI, Gangliosidose GM 02 Typ HI, Tay-Sachs-Syndrom, Tay-Sachs-Krankheit, G(M2)-Gangliosidose, Typ I, GM2-Gangliosidose, Typ I, Gangliosidose-G(M2), Typ I, Gangliosidose-GM2, Typ I, Hexosaminidase-A-Mangelkrankheit
Japanese ティサックス病, ティサックスビョウ, 黒内障性家族性認知症, ガングリオシドーシスGM2-1型, 家族性黒内障性白痴, 黒内障性家族性白痴, G(M2)ガングリオシド蓄積症1型, Tay-Sachs病, GM2-ガングリオシドーシス1型, テイ-サックス病, 黒内障性家族性痴呆, 黒内障性白痴, 1型G(M2)ガングリオシド症, 1型ガングリオシド症G(M2), GM2ガングリオシドーシス1型, GM2ガングリオシドーシスI型, ガングリオシドーシスGM2-I型, ガングリオシド蓄積症G(M2)1型
Swedish Tay-Sachs sjukdom
Czech Tayova-Sachsova nemoc, Tay-Sachsova nemoc, Tay-Sachsova choroba, GM2 gangliosidóza, varianta B, Tay Sachsova choroba, GM2 gangliosidóza I, Tay Sachsův syndrom
Finnish Tay-Sachsin tauti
Russian TEIA-SAKSA BOLEZN', IDIOTIIA AMAVROTICHESKAIA DETSKAIA RANNIAIA, GANGLIOZIDOZ G(M2), TIP I, ГАНГЛИОЗИДОЗ G(M2), ТИП I, ИДИОТИЯ АМАВРОТИЧЕСКАЯ ДЕТСКАЯ РАННЯЯ, ТЕЯ-САКСА БОЛЕЗНЬ
Polish Choroba Taya-Sachsa
Hungarian Tay-Sachs-betegség
Norwegian Tay-Sachs sykdom, GM 2-gangliosidose type 1, GM 2-gangliosidose type I, GM2-gangliosidose type 1, GM2-gangliosidose type I
Dutch ziekte van Tay-Sachs, GM2-gangliosidose type I, Gangliosidose GM2 type I, Gangliosidose GM2, type I, Tay-Sachs, ziekte van, Ziekte van Tay-Sachs, Hexosaminidase-A-deficiëntieziekte
French Maladie de Tay-Sachs, Déficit en hexosaminidase A, Gangliosidose à GM2 de type 1, Gangliosidose à GM2 de type I, Gangliosidose à GM2 variante B
Italian Malattia di Tay-Sachs

Ontology: Amaurotic Familial Idiocy (C0282220)

Definition (MSH) An outdated term for Tay-Sachs disease.
Concepts Disease or Syndrome (T047)
MSH D013661
SnomedCT 192786008, 111385000
English Amaurotic Idiocy, Familial, Familial Amaurotic Idiocy, amaurotic familial idiocy, Amaurotic familial idiocy, Infantile amaurotic familial disease, Amaurotic Familial Idiocy, Familial Idiocy (Amaurotic)
French Idiotie amaurotique familiale, Idiotie familiale amaurotique
German Amaurotische familiäre Idiotie, amaurotische familiaere Idiotie
Czech amaurotická familiární idiocie, idiocie, amaurotická familiární, Familiární amaurotická idiocie
Dutch amaurotische familiale idiotie
Hungarian Amaurotikus familiaris idiotizmus
Italian Idiozia familiare amaurotica
Japanese 家族性黒内障白痴, カゾクセイコクナイショウハクチ
Spanish Idiocia familiar amaurótica, enfermedad familiar amaurótica infantil, enfermedad familiar amaurótica, idiotez familiar amaurótica
Portuguese Idiotia anaurótica familiar juvenil