Tay-Sachs Disease

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by FurmanMJ
Last updated 6 years ago

Human Anatomy

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Tay-Sachs Disease

Incedences-Rare, more common among Ashkenazi Jews, French-Canadian communities of Quebec, and the Cajun population of LouisianaSymptoms-deafness, blindness, paralysis, slow growth, seizures, delayed motor skills, delayed mental and social development

Organelle AffectedLysosome- Without the hex-A enzyme, which properly stores the ganglioside within the lysosome, the ganglioside accumulates in the cell -the nerve cell will eventually die

Treatment- no known cure,feeding tubes, physical therapy, and medication available

Tay-Sachs Disease

Tay-Sachs disease is also known as Gangliosidosis.It is a rare genetic disease passed down from parents to children.Caused by:-absence of the vital enzyme called hexosaminidase (Hex-A), which regulates amount of ganglioside in a nerve cell-defective gene on Chromosome 15 causes the lack of production-ganglioside builds up in nerve cells, destroys them

-Children with Tay-Sachs die around age 5-First test tube baby was born with Tay-Sachs-Named after Warren Tay and Bernard Sachs-On eye examination, people with Tay-Sachs exhibit a cherry-red spot on their retina

Order of Structures Affected 1. Neurons in Brain 3. Brain (Organ) -Affected by ganglioside that destroys nerve cells -Brain starts to lose cells, causing symptoms2. Ganglia (Tissue) 4. Nervous, Muscular Systems -Many nerve cells affected in the brain tissue -Brain fails to control body systems, leads to mental problems, lack of motor skills


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