What is Louis Barre syndrome?
Ataxia telangiectasia (Louis-Bar Syndrome) is a rare autosomal recessive condition characterized by cutaneous telangiectasias, cerebellar atrophy with progressive ataxia, and a higher incidence of malignancy, immune deficiency, radiosensitivity, recurrent sinopulmonary infections, and elevated levels of alpha- …
What symptoms are characterized for the Lui Barr’s syndrome?
Clinical description Onset usually occurs between 1 and 2 years of age with abnormal head movements and loss of balance, followed by slurred speech and abnormal eye movements. Poor coordination and trembling of the extremities may appear towards 9-10 years of age and worsen progressively.
Why is ataxia-telangiectasia recessive?
Ataxia-telangiectasia is inherited in an autosomal recessive pattern , which means both copies of the ATM gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Who gets ataxia-telangiectasia?
Ataxia telangiectasia usually begins during infancy (between one and three years of age) and often affects more than one child in a family. Males and females may be affected in equal numbers. In the United States, the prevalence is approximately one in 40,000-100,000 live births.
What is the best treatment for Guillain-Barré syndrome?
The most commonly used treatment for Guillain-Barré syndrome is intravenous immunoglobulin (IVIG). When you have Guillain-Barré syndrome, the immune system (the body’s natural defences) produces harmful antibodies that attack the nerves. IVIG is a treatment made from donated blood that contains healthy antibodies.
What are the phases of GBS?
The three phases of GBS are the progressive phase (lasting from days to 4 weeks), a plateau phase with little clinical change (lasting from days to months), and a recovery phase. By 7 days, about three quarters of patients will achieve their nadir in neurologic function, and 98% will do so by 4 weeks.
What is ATM mutation?
Researchers have identified several hundred mutations in the ATM gene that cause ataxia-telangiectasia. People with this disorder have mutations in both copies of the ATM gene in each cell. Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of the ATM protein.
What is the check 2 gene?
The CHEK2 gene gives your body instructions for making a protein called CHK2, which acts as a tumor suppressor. This means it keeps cells from growing and dividing too quickly. When DNA becomes damaged or DNA strands break, the CHK2 protein works with other proteins, including TP53.
What is telangiectasia caused by?
It’s believed that most cases of telangiectasia are caused by chronic exposure to the sun or extreme temperatures. This is because they usually appear on the body where skin is often exposed to sunlight and air.
What is Louis-Bar syndrome?
Louis-Bar, D. “Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symmetriques naevoides et de troubles crerebellaux”. Confin Neurol (Basel). vol. 4. 1941. pp. 432-42.
What are the symptoms of ataxia-telangiectasia or Louis-Bar syndrome?
Some of the symptoms of Ataxia-Telangiectasia or Louis-Bar Syndrome are: Reduced coordination of movements along with abnormal gait and unsteadiness. Reduced mental development. Delayed ambulation abilities. Discoloration of skin, especially parts that are exposed to sunlight.
What are the signs and symptoms of amyotrophic lateral sclerosis (ATM)?
Life span is shortened and many patients succumb to their disease by the 3 rd and 4 th decades. In some famiies with confirmed mutations in ATM the disorder presents with signs of primary torsion dystonia and myoclonus-dystonia. These signs may resemble an apparent autosomal dominant pattern with parent-child transmission.