Tay-Sachs

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Tay-Sachs

Tay-Sachs

Introduction

Overview

Tay-Sachs is an inherited disorder. This means that it is transmitted from father to son. When a baby is conceived, the him / herself receives half the chromosomes from their mother and the other half comes from his father. If both parents are carriers of the deficient enzyme characteristic of Tay-Sachs, there will be approximately between 1 and 4 chance that your doctor tells you that your baby has the disease. If only one parent is a carrier of the enzyme in question, the baby will not develop Tay-Sachs, but will become a carrier of it(O'Brien et al, 1970).

Fortunately, Tay-Sachs is not very common. However, certain factors increase the risk of giving birth to a baby with this disorder. Risk factors may include:

Being a descendant of people from Central Europe or European Jews.

Being a descendant of Cajun.

Franceces-Being of Canadians.

Discussion

Symptoms of Tay-Sachs

Babies born suffering from Tay-Sachs usually are healthy until they are four months old. When you reach that age, symptoms of the disorder begin to appear. The most common symptoms of this disease include(Walker, 2007):

Gradual loss of mobility

Decline of eye contact.

Development exaggerated reflexes.

Mental and Physical development very slow.

Seizures.

Dementia.

Gradual blindness.

Gradual deafness.

Muscle atrophy can direct to paralysis.

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Causes

Tay-Sachs is a chromosomal adisorder ahereditary acauses asevere aside aeffects, aboth aphysical aand amental. a aIt aaffects amost ababies aduring athe aearly amonths aof alife, athe aTay-Sachs adisease aoccurs awhen afat aaccumulates ain athe abrain, apreventing athe anerve acells ato afunction aproperly. a aThis aprevents afat aaccumulation amobility, aposilidad aof acommunication, aexpression, aand aeven abasic afunctions. a aregrettably, athere ais ano atreatment afor athis adisease, aand amost achildren awith athis adisease apass aaway aduring athe afirst a5 ayears(Walker, a2007). a

Tay-Sachs ais acaused aby adeficiency aof aan aenzyme aprotein ain anature, acalled ahexosaminidase a(hex aA). a aThe aHex aA ais aan aenzyme aproduced aby ayour abody, ait ahelps adestroy afat acomponents apresent ain anerve acells, akilling athem aand aenabling atheir anerve acells ato afunction aproperly. a aHowever, achildren awith athis adisease ado anot ahave aany akind aof ahex aA ain ayour abody. a aAs aa aresult, atheir abodies aare aunable ato aattack athe afatty asubstances apresent ain athe abrain, acausing athe adevelopment aof ablindness, adeafness aand aeven death.

Prenatal Monitoring

You can monitor your baby to see if the same / a have the Tay-Sachs before birth. The intrauterine monitoring can be conducted by your health care, which are: an amniocentesis or chorionic villus sampling. Prenatal checkups are usually very helpful as they can help ayou aprepare afor agiving abirth ato aa ababy awith aTay-Sachs(Desnick, 2001).

Amniocentesis

Amniocentesis is atypically aperformed abetween aweek a15 aand aweek a18 aof apregnancy. a aTo aperform athis atest adoctor ainserts aa aneedle ainto ayour aabdomen ato aremove aa asample aof aamniotic ...
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