Ataxia telangiectasia

Ataxia telangiectasia is a neurodegenerative disease that affects many different parts of a person’s body and can lead to major disability. It is an inherited disease, but it is very rare. Ataxia telangiectasia is also sometimes referred to as Louis-Bar syndrome or Boder-Sedgwick syndrome. The disease first appears in very young children who are only a few years old. However, the symptoms that first appear can be difficult to connect to ataxia telangiectasia at first because they are not readily noticeable as signs of a problem.

Ataxia telangiectasia targets the cerebellum, or the part of the brain that coordinates muscle control. It can also affect the immune system, which leads to an increased risk of becoming ill, developing respiratory problems, and developing cancer. Ataxia telangiectasia can appear in one of three different forms. The first is sometimes called pure ataxia telangiectasia, and it includes almost all of the symptoms. The second type, Attenuated, involves a patient suffering from many but not all of the standard symptoms. Finally, a patient is diagnosed with Carrier Ataxia Telangiectasia if they have only one mutated ATM gene. Those with Carrier Ataxia Telangiectasia generally show only an increased risk of developing cancer.

In addition to these three different types of ataxia telangiectasia, there are a number of different disorders that have similar symptoms. This can make it difficult to immediately diagnose a disorder as ataxia telangiectasia or as something like cerebral palsy or Hartnup disease. There is also something called ataxia telangiectasia Like Disorder, or ATLD, that is a very rare disorder that is not the same as ataxia telangiectasia, although the two share many characteristics. Because many doctors aren’t familiar with ataxia telangiectasia due to its rareness, it may take some time for them to properly diagnose it, and they may want to rule out all of the similar diseases first.

Generally, the symptoms of ataxia telangiectasia start when a child is young, although these early signs are difficult to detect. They include things like a lack of balance, having more infections than normal, or having slurred speech. Children may start walking later than usual or may always want to hold on to someone or something as they walk. They may also fall often. In some cases, children seem to get better, but usually by age five or so, it is obvious that they have poor balance. As they enter their teen years, other issues appear, such as being so unbalanced that it’s hard to walk. In fact, many with ataxia telangiectasia are forced to use a wheelchair by the time they reach age ten or so.

Later on, it can be difficult for a person to coordinate movements, and they may start to have involuntary limb twitches or movement that becomes worse as they age. This may look like fidgeting at first, but it will eventually turn into uncontrollable jerks and shaking. They may also develop slurred speech that becomes steadily worse for several years and then remains an issue. While they can usually be understood, those with ataxia telangiectasia must speak slowly.

Another issue is that the blood vessels in the whites of a person’s eyes start to be easily noticeable. They look much like the blood vessels in an older person. They don’t bleed or cause any trouble; however, eye movement can become difficult, and a person may have issues reading.

Finally, those with ataxia telangiectasia have weakened immune systems. They often have runny noses and colds. In some cases, extra immunizations can help, while in others, a person may need to continuously take low levels of antibiotics to help their system fight off disease. However, this symptom does not always accompany ataxia telangiectasia, and some people with the disease have perfectly normal immune systems.

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Last updated on Jan 10th, 2010 and filed under Immune System. Both comments and pings are currently closed.

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