Also called Louis-Bar Syndrome, Ataxia is transmitted as an autosomal recessive trait. There is a gene called ATM, and ataxia is a result of the genetic mutations of that gene. Ataxia sometimes refers to a large family of diseases and disorders, though it is not universally inclusive. Ataxia may be referred to in connection with all different kinds of diseases.
Since Ataxia is a genetic affliction, it is easily passed along from parents to offspring. If one or both parents have a family history of ataxia, they should be given genetic counseling and be made aware of the potential problems. There is no treatment for Ataxia, and most who suffer from it die in adolescence or early adulthood. This is because the body cannot easily sustain ataxic movement of the body, cells or organs.
The most common symptom and sign of Ataxia is problems with movement. Often, children with Ataxia have difficulties with motor skills and development, and might display jerky movements with delayed reactions. They may have no deep-tendon reflexes, growth failure, an absence of pubertal development and repetitive, jerky eye movements. Sometimes, it is not diagnosed as an ataxic disorder, and the patient may be misdiagnosed, which has extremely negative consequences. Any disease associated with ataxia should be treated carefully and quickly.
Dilated blood vessels, primarily in the whites of the eyes, the skin of the nose and the ears, and the flexion sides of the elbows and knees, and the sides of the face are common in victims of Ataxia. As the disease develops, patients might begin to see birthmark-colored spots on the skin and pigmentary skin distortions on areas of the body that are routinely exposed to sunlight. The muscles will begin to atrophy later in the disease and seizures are not uncommon.
As I said before, there is no treatment for Ataxia. Treatment directed to specific conditions and symptoms is possible, but they are not always successful. Since most people who suffer from Ataxia never grow beyond childhood or adolescence, there is very little known about the affliction in an adult patient.
Victims of Ataxia are more susceptible to sexually transmitted diseases (STD's), cancer and pulmonary disease, and may also experience symptoms of epilepsy and heart disease. Kidney and liver problems are not uncommon.
Because patients with Ataxia are extremely sensitive to radiation, a minimum of x-rays should be administered. Sometimes, x-rays are required to ascertain levels of bone development and other issues, but as few as possible should be given. If a family history of Ataxia is discovered, even patients without Ataxia should be screened for cancer more aggressively and should be subjected to genetic counseling.
For parents of children with Ataxia, I recommend that you join a local support group or a support group online. Research the disorder and learn as much as you can about the symptoms, signs and treatment so that your children can be given the best chance possible for a long life span. Sometimes, parents are the only ones who can notice common symptoms, and although treatment of symptoms will not relieve the child of the disease, they can make the child more comfortable and lessen the strain caused by the disorder.
Published by Kevin Brzenk
I am a pediatrician with a wife, three kids and a beautiful fishing boat. View profile
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- www.ninds.nih.gov/ - National Institute of Neurological Disorders and Stroke www.ataxia.org - Ataxia Foundation



