Tay Sachs

Mallory Adley

Description of Defect

rare inherited disorder that destroys the nerve cell in the brain and spinal cord.

Signs and symptoms

Deafness, progressive blindness, decreased muscle strength, increased startle response, paralysis or loss of muscle function. Seizures, muscular stiffness (spasticity), delayed mental and social development, slow growth, and a red spot can form on the macula ( an oval- shaped area near the center of the retina in the eye.)

Genetics/inheritance

Yes it is hereditary and its caused by an absence of vital enzyme called hexosaminidase-A (Hex A)

Diagnosis

Prenatal test such as CVS (chorionic villus sampling) The test are usually done in the early stages to detect if any abnormal features.

Prognosis (statistics) and Sources

Children who have this only get worse and usually end up passing away. There is no treatment. healthline.com kidshealth.org news-medical.net
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