+Name of Disease/Disorder
Tay-Sachs (Autosomal Recessive)

Description: (TNR, 12, Bold)
· Symptoms appear by six months of age
· Over time the child becomes blind, deaf and mentally retarded and paralyzed
Children with Tay-Sachs
· Children with Tay-Sachs lack a vital enzyme, which is hexosaminindase, which is needed for the body to break down the fatty waste substance found in brain cells.

Inheritance:

Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each transmits a defective gene to their child. A child who inherits two Tay-Sach genes produces nonfunctional Hex-A enzyme and is certain to develop Tay-Sachs disease. A person with only one Tay-Sachs gene is healthy but is a Tay-Sachs carrier. When both parents are carriers, there is a 25% chance that they will have a child with Tay-Sachs.



Symptoms:
· Mental retardation
· Disability
· Brain disorder
· Spinal cord disorder
· Nerve disorder


Daily Life:




Diagnosis:
· Tay-Sachs is diagnosed by a visible cherry-red spot in the back of the eye.
· Many parents also choose to take their child to the doctor after they start to realize development delays.
· Around 10-14 months of age, children start to exhibit trouble tracking or focusing with their eyes.
· The cherry-red spot is quickly seen and an initial diagnoses of Tay-Sachs is made.




Treatment:
· There is no cure for this disease, or way of slowing down the progression, therefore, treatment for Tay-Sachs is focused on controlling the symptoms.
· Treatments may include medication, and techniques to keep the air way open.
· Several different medications are available to treat symptoms of Tay-Sachs like anticonvulsant medicine can be used for seizures.



ResearAch:
· Over the past several decades, researchers have developed screening tools that have reduced the accurance of Tay-Sachs.
· Currently there is no effective way to delay the progression of the disease.
· Scientist around the world are investigating a range of treatment options for a number of diseases, including Tay-Sachs, that stem from excess cell products building up in the nerve cells or other cell types.


Additional Facts:
· Tay-Sachs carriers are found most frequently among families of Eastern European Jewish descent.
· In the U.S today, approximately one in every 27 Jews is a Tay-Sachs carrier.
· Rarer forms of Tay-Sachs disease that develop later in a persons life are due to low levels of the Hex-A enzyme, instead of a complete deficiency of Hex-A such as the infinite form of the disease.




Punnett Square:




Pedigree Chart:





Resources:

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