Tay-Sachs Disease by Raquel Rael

Tay-Sachs Disease

s80255 — 2019-03-08 21:20:32 UTC

This is a gene based disease

INHERITANCE PATTERN

s79520 — 2019-03-08 21:20:43 UTC

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Tay-Sachs Disease Description

s80255 — 2019-03-12 20:34:47 UTC

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Infants with this disorder typically appear normal until the age of 3 to 6 months, with their development slows and muscles used for movement weaken.

Tay-Sachs Disease Frequency

s80255 — 2019-03-12 20:51:26 UTC

Tay-Sachs disease is very rare in the general population. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsilvania, and the Cajun population of Louisiana.

CAUSES

s97295 — 2019-05-14 20:00:39 UTC

A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

s79520 — 2019-05-14 20:16:02 UTC

VIDEO OF THE CURE OF TAY-SACHS

s97295 — 2019-05-14 20:20:38 UTC