
General Description
There are 3 types of Tay Sachs. Infantile, Juvenile and adult. A noticeable characteristic are cherry-red spots on the retina of babies with the problem. Babies born with Tay-Sachs usually start to notice around 3-6 months. The disease is very noticeable because of the course of a few years the child loses the ability to see, hear, and move. Then death sets in around age 5. The only way to get Tay-Sachs is if both of your parents are carriers of the the gene. Meaning there is a gene disorder. The gene is sex-linked, and the gene is recessive. Tay-Sachs is caused by a mutation in Hex A gene on the 15th chromosome
Symptoms
Infantile symptoms are usually noticed at age 3-6 months. They tend to lose any motor and mental skills they already had and lose anymore that should be developing at this time. Following this is paralyses and death by age 5
Juvenile’s symptoms start at about age 5 and symptoms similar to infantile. The progression however is slower.
Adult Tay-Sachs symptoms include:
• Deafness
• Decreased eye contact, blindness
• Decreased muscle tone (loss of muscle strength)
• Delayed mental and social skills
• Dementia
• Increased startle reaction
• Irritability
• Listlessness
• Loss of motor skills
• Paralysis or loss of muscle function
• Seizures
• Slow growth
Incidence Rates
Tay Sachs is most common in Jews of Eastern Europe descent. 1 in every 27 Jews in the US is thought to be a carrier of Tay Sachs. The incidence of Tay Sachs carriers is about 1 in 250. Every year 27 people in the US are diagnosed with the Tay-Sachs disease. It appears in males and females just the same. The only way to be fool proof your child does not end up with the disease is to get a blood test to screen you and your partners for this disease.
Current Treatments
There is no cure or effective treatment for Tay-Sachs disorder. The only thing you can do for people with the disease is make them as comfortable as possible.
Resources Used
*http://www.ninds.nih.gov/disorders/taysachs/taysachs.htmAddress 2
*http://www.kidshealth.org/parent/medical/genetic/tay_sachs.html
*http://ghr.nlm.nih.gov/condition=taysachsdisease
*http://www.nlm.nih.gov/medlineplus/ency/article/001417.htm
*http://www.healthscout.com/ency/68/238/main.html
It's sad how you will die from this disease and nothing doctors can do to stop or slow it.