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Tay-Sachs Disease

Congenital Malformations and Chromosomal Abnormalities

Tay-Sachs disease is an inherited, fatal disorder in which a missing enzyme allows fatty substances to accumulate abnormally within nerve cells, progressively destroying cells in the brain and spinal cord. The most common form, infantile Tay-Sachs disease, becomes apparent around three to six months of age, when an affected infant loses previously acquired abilities such as turning over, sitting, or crawling. The disease then progresses to seizures, hearing loss, and loss of movement.

Facts
Classification
Body System
Nervous System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
1881 4
Sources
1. Wikipedia: Tay-Sachs disease
Wikipedia
  • infobox causes
    causes: Genetic (autosomal recessive)
  • Lead section, body-system statement
    Tay-Sachs disease is an inherited fatal lysosomal storage disease that results in the destruction of nerve cells in the brain and spinal cord.
  • Lead section, transmission-route statement
    Tay-Sachs disease is an inherited fatal lysosomal storage disease that results in the destruction of nerve cells in the brain and spinal cord.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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4. Tay-Sachs Disease (Wikipedia)
Lead section
Quote, Lead section
Tay-Sachs disease is an inherited fatal lysosomal storage disease that results in the destruction of nerve cells in the brain and spinal cord.
View the Source
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