The causes symptoms diagnosis and possible treatments for tay sachs disease a rare autosomal recessi

The levels are low or absent in Tay-Sachs disease. You may need to see a pediatric neurologist and an ophthalmologist for nervous system and eye examinations. Treatment There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms.

The causes symptoms diagnosis and possible treatments for tay sachs disease a rare autosomal recessi

What is Tay-Sachs Disease: Tay-Sachs Disease is an extremely rare genetic disorder in which the enzyme that breaks down fatty acids in the body is absent. Because of this, there is a build up of fatty substances to such an extent that they reach toxic levels in the brain of the child and start affecting the nerve cells causing a variety of symptoms from blindness to eventual death.

The symptoms of Tay-Sachs Disease may start to become apparent by the time the baby reaches six months of age. As of now, there is no cure for this condition and the treatments rendered are purely symptomatic and supportive making the child as comfortable as possible and to slow down the progression of Tay-Sachs Disease.

This condition is seen mostly in the Amish Community of Pennsylvania or people from Eastern or Central European descent. Tay-Sachs Disease is an autosomal recessive trait which means that a copy of the defective gene needs to be inherited from both parents in order to get this disorder.

In case if a family is at risk for developing this disorder or an individual has a family history of this disorder then it is recommended that he or she seek genetic counseling before planning to have children to see whether their offspring may have the risk for developing Tay-Sachs Disease.

What Causes Tay—Sachs Disease? As stated above, Tay-Sachs Disease is a genetic disorder which means that the child gets this disease through his or her parents. Because of this gene there is less or no production of enzyme Hexosaminidase-A which is responsible for removing fatty substances from nerve cells.

This is what leads to Tay-Sachs Disease.

The causes symptoms diagnosis and possible treatments for tay sachs disease a rare autosomal recessi

The build of fatty substances in the brain resulting in damage to the nerve cells may result in impairment of many bodily functions to include vision, speech, hearing, movement and mental abilities of a child.

Tay-Sachs Disease is an autosomal recessive trait meaning that a copy of the defective gene has to be inherited from both the parents for the child to get Tay-Sachs Disease.

What are the Symptoms of Tay—Sachs Disease? The symptoms of Tay-Sachs Disease may start to become apparent by the time the child is five to six months of age.

The first visible sign of Tay-Sachs Disease is the presence of a red colored dot behind the eyes. The vision of the child may also be observed to be poor that may be clearly observed seeing that the child gets startled even with the slightest of movements even while awake and may get frightened and start crying.

The second symptom of Tay-Sachs Disease is that the child will have significant delay in meeting developmental milestones like crawling or sitting up unassisted.

By the time the child is about a year old, additional symptoms may develop which may include: Severe muscle weakness progressing to paralysis Extremely poor vision.An abnormal optic disc has many possible causes (see Table ).

Tay Sachs Disease - NORD (National Organization for Rare Disorders)

This table provides a guide to the process of diagnosis based on clinical symptoms and the physical exam, without the need for further technologic resources. and a progressive irreversible ataxia may develop late in the disease.

AUTOSOMAL DOMINANT ophthalmoplegia. The. Causes LBW is either caused by preterm birth (that is, a low gestational age at birth, commonly defined as younger than 37 weeks of gestation) or the infant being small for gestational age (that is, a slow prenatal growth rate), or a combination of both.

Spina Bifida

0 Votos positivos, marcar como útil. 0 Votos negativos, marcar como no útil Votos negativos, marcar como no útil. others such as in Tay-Sachs disease (TSD), there is much less Fucosidosis is a rar e autosomal recessi ve inherited LSD.

The. Free sialic storage disease is a rare autosomal recessive LSD. In infantile Tay-Sachs disease, there is an almost complete lack of hexosaminidase A. In late-onset Tay-Sachs disease, there is deficiency of hexosaminidase A enzyme activity. Because there is some enzyme activity, the disorder is less severe and progresses much slower than infantile Tay-Sachs disease.

There are several dozen genetic diseases whose most prominent symptoms are neurological, including Tay-Sachs disease, metachromatic leukodystrophy Lesch-Nyhan disease, and phenylketonuria (PKU). The brain differs from other organs in two important respects.

Prenatal development | Revolvy