Tay Sachs Disease – A Very Rare Genetic Disorder

Filed under: Tay Sachs Disease - 29 Nov 2011  | Spread the word !

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Tay Sachs disease is a genetic disorder that gradually destroys the cells from the brain and from spinal area. Tay Sachs disease is one of the rarest health issues and its main cause is the lack of an important enzyme called Hexosaminidase A. Without it, the body cannot function properly, so as an effect of it, the mental health is damaged ad those who suffer from this disease will have severe mental problems. There are not yet known many things about Tay Sachs disease. This disease causes a fat storage that begins to affect the possibility of movement and of thinking of those who suffer from Tay sachs disease, so their life becomes very difficult and they feel worse.

In case his both parents carry a certain gene, then a baby will suffer from Tay Sachs disease, so is an inherited health issue. Tay Sachs disease symptoms are observed by the age of six months and the baby usually survives up to four years, but there is no cure for this health problem yet. Tay Sachs disease is very hard as there interfere psychological problems, as well as physical, so for a parent who has a baby that suffers from Tay Sachs disease is very sad as he knows that in the end his kid will die. A child that makes no eye contact with his parents, might be a symptom of Tay Sachs disease, but only the right medical tests will tell the right answer, so until then, nothing is sure.

Moreover, a red and visible spot on the retina is also a symptom of the Tay Sachs disease, but this is not enough as it can be an opthalmologic problem, so there is a a great need for having all necessary medical tests to make sure that is or not Tay Sachs disease. The fatty tissues that grow in the brain affect its cells causing their death, step by step. Tay Sachs disease is a very rare genetic disease and there is no cure for it, but scientists and doctors still search for  remedy, hoping that one day the lives of many children will be saved.

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Tay Sachs Disease Information

Filed under: Tay Sachs Disease - 18 Oct 2011  | Spread the word !

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Tay Sachs Disease, also known as TSD, is one of the most rare and at the same time dangerous genetic disorders of all times. Its name comes from the ophthalmologist Warren Tay and the neurologist Bernard Sachs, who both had a significant role in the discovery and the better understanding of Tay Sachs Disease. As I said, Tay Sachs Disease is very rare, and it is more common in the Ashkenazi Jewish population from Eastern and Central Europe and, more recently, in the French-Canadian/ Cajun heritage people.

Tay Sachs Disease is caused by a genetic defect and it progressively destroys the nerve cells in the brain and in the spinal cord. Unfortunately, infants are more likely to develop Tay Sachs Disease. A baby who has Tay Sachs Disease is born without Hexosaminidase A, or Hex A, which is one of the most important enzymes in the human body. As a result, this fatal genetic lipid storage disorder occurs, because the lack of Hex A makes it possible for the fatty substance called ganglioside GM2 to build up into the tissues and further, into the nerve cells. This causes problems in the vision, hearing, movement and mental development. Usually, by the age of 6 months, the baby will develop normally. Once Tay Sachs Disease is triggered, around this age, the baby will not make it and he will die at about 4 years old due to further infections or complications.

Tay Sachs Disease is most often inherited. As it is an autosomal recessive genetic disorder, an infant can only have Tay Sachs Disease if both parents are carriers of the responsible gene. This means that if two carriers have a child, there is a 50% chance that the baby will be a carrier, but it will not have the disease, 25% chance that the child will not be a carrier, nor it will have the disease, and 25% chance that the baby will have the disease. In the United States, about 16 Tay Sachs Disease are reported every year. Unfortunately, no cure has been found for Tay Sachs Disease yet, so this condition is one of the most feared by parents all over the world.

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Tay Sachs Disease Is A Fatal Genetic Disorder In Kids

Filed under: Tay Sachs Disease - 15 Sep 2011  | Spread the word !

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Tay Sachs disease is a very severe one that appears at the age of six months and the baby will survive only by the age of 4, so there is no cure for it. Tay Sachs is an autosomal recessive genetic disease and it is also called better as infantile Tay Sachs disease. Tay Sachs is a rare disorder, but there is no cure for it, at least not yet. The cause of the Tay Sachs disease is the genetic problem from a single gene that has a defective copy. Tay Sachs symptoms are various and they begin from a very early age: mental and physical problems, the baby cannot hear, cannot see, muscles problems and then paralysis.

Other Tay Sachs symptoms are related to the juvenile Tay Sachs, which is a very rare disorder, and the symptoms are present in kids that have between two up to ten years that can have cognitive, speech, ataxia, spasticity, dysphagia. Tay Sachs is a controversial disease that cannot be explained and understood completely although a lot of studies have been made. Tay Sachs can appear at adults in their 20′s or 30′s, but it is not causing death. The name of this disorder comes from the doctor that discovered the red spot on the retina, called Warren Tay and after the doctor Bernard Sachs that studied the changes at a cellular level of this disease and also observed that they are more frequent at the Jewish from the Eastern Europe.

It is hard to confront to this genetic disorder if you are the parent of a child that suffers from Tay Sachs, but it is also hard to be an adult that has also this disease as psychological problems can appear. It is horrible to be confronted to something like this as a parent, taking in consideration that for six months, you child seems alright and from a sudden things change radically. Doctors have methods that will make the baby feel better, but death is imminent. Let us hope that in the future a cure for this disease will come out or a test that tells us from time if we have a baby with such problems.

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Dealing with Tay-Sachs Disease

Filed under: Tay Sachs Disease - 15 Mar 2011  | Spread the word !

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Tay-Sachs disease is a very unfortunate condition. The reason this condition is so severe is that there is currently no cure for it. Although this condition will currently take someone’s life, significant efforts are being made to find a way to combat this disease.

The other significant reason why this condition is so tragic is because it normally occurs in children. Although the odds of a child having this condition are not great, there are symptoms that can make it clear if a child does have this condition. The first is that a child may suffer from seizures. The next is that behaviors such as crawling or smiling no longer occur as often. Another sign of this disease is that the child stops making eye contact as often. One of the symptoms that can confirm a child has Tay-Sachs disease is if their head increases in size but the rest of their body grows slowly.

As this condition gets worse, it can lead to more severe symptoms like loss of vision or hearing. Because all of these symptoms can also be signs of other conditions, if you notice any of them in your child, it’s important to have them evaluated by your doctor. Even if your child is fortunate enough not to have Tay-Sachs disease, they may have another condition that requires medical attention.

Although there is no way to cure a child who has been diagnosed with Tay-Sachs disease, your doctor will be able to help provide medical care to your child to make them as comfortable as possible.

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Tay-Sachs Disease Facts

Filed under: Tay Sachs Disease - 22 Jul 2010  | Spread the word !

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Tay-Sachs disease is an especially heart breaking part of life. This disease is most often found in infants and results in their mental and physical capacities to be continuously broken down and eventually leads to death by age four. Generally, the first symptoms of Tay-Sachs will be noticed around six months of age and can be diagnosed by the red dot that is visible on the retina. It is also named after the ophthalmologist, Warren Tay that first noticed the red dot and the neurologist that first studied the degradation of the cells, Bernard Sachs.

Unfortunately, there is no cure or treatment available for this genetic disorder. However, the source of the problem has been located to the Hex-A gene. The mutation of the Hex-A gene must be inherited from both the mother and the father in order for Tay-Sachs to pose a threat. It is located on the fifteenth chromosome and the mutation is notable in the Cajun populations of Louisiana as well as French-Canadians in Southern Quebec and the Ashkenazi Jews of Eastern Europe.

Tay-Sachs, though exceedingly rare, is caused when there is an excess amount of gangliosides on the nerve cells in the brain. This then causes those cells to die off much more rapidly than they would have under normal circumstances. Symptoms of Infantile Tay-Sachs Disease (TSD) are normal development for the first six months and then blindness, deafness, atrophy and eventually paralysis and death. Juvenile TSD is characterized in much the same way with unsteadiness, difficulty swallowing and other cognitive and motor function loss with most patients dying between five and fifteen years, but is also much more rare. The rarest form of TSD is Late Onset TSD, or LOTS, is also the safest. In adults there are more psychiatric issues to be concerned with and the motor skill loss, but it isn’t generally fatal.

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Tay Sachs Disease – online facts and information

Filed under: Tay Sachs Disease  -    Pinned  | Spread the word !

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Known as the frightening and extremely rare genetic disease that literally destroys your whole nervous system, Tay Sachs Disease typically shows up due to the enzyme beta-hexosaminidase A is absent in the body. Any person afflicted by Tay Sachs Disease experience a malfunction of their brain cells because the body accumulates fatty compounds in the brain cells and in the tissues. The mental capacity and overall growth of the patient is the area that is mostly affected.

Something else you need to know is that Individuals suffering from this debilitating disease eventually become deaf and blind. What’s more, patients experience face muscle atrophy that will in time cause paralysis. Because Tay Sachs Disease is a genetic disorder, it can only be inherited from either their our mother or father. This genetic disorder impacts a child from the moment they are born. Symptoms can lie dormant for up to seven months. You may notice muscle twitches during that period. From birth until around a year old, babies tend to suffer a break down in motor skills.

As time passes, Tay Sachs Disease becomes more and more intense resulting in vision and hearing loss. There is no known cure or effective treatments for Tay Sachs Disease. The only course of action to try and make the patient as comfortable as possible by minimizing the symptoms with prescription medicine. Certain meds are able to greatly reduce pain and cut down on muscle twitching. Family support is critical for individuals entering into the late stages of the disease. Getting genetic counseling is highly recommended for Tay-Sachs patients who are planning to get married or considering becoming parent.

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