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Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system, immune system, and other body systems.
This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood. Affected children typically develop difficulty walking, problems with balance, abnormal eye movements, and slurred speech. Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
People with ataxia-telangiectasia often have weakened immune systems, and many develop chronic lung infections. They are also at an increased risk of developing cancer, particularly cancer of blood-forming tissue (leukemia) and cancer of immune system cells (lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. Although people with ataxia-telangiectasia usually live into adulthood, their life expectancy is reduced.
This condition occurs in 1 in 40,000 to 100,000 people worldwide.
Mutations in the ATM gene cause ataxia-telangiectasia.
The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. Mutations in the ATM gene reduce or eliminate the function of the ATM protein. Without this protein, cells in the brain die inappropriately, particularly in a part of the brain involved in coordinating movements (the cerebellum). The loss of these brain cells causes the movement problems characteristic of this disorder. Mutations in the ATM gene also prevent cells from responding correctly to DNA damage, which allows genetic defects to accumulate and can lead to cancer.
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.
About 1 percent of the United States population (2.5 million people) carry one mutated copy and one normal copy of the ATM gene. Although they do not have ataxia-telangiectasia, they are more likely than people without an ATM mutation to develop cancer, particularly breast cancer. Carriers of a mutation in the ATM gene also may have an increased risk of heart disease.
'''Ataxia''' (from History of the Greek language ''ataxiā'', meaning disorder) is unsteady and clumsy motion of the limbs or trunk due to a failure of the fine coordination of muscle movements. The cerebellum is the center of the fine motor skill of muscle movements, while the information emerging from it is carried to the muscles by the spinal cord and nerve, respectively. Therefore a disorder in either the spinal cord or in the peripheral nerves can cause ataxia. Ataxia may be caused by a congenital disorder (for example Friedreich's ataxia), a infection (chicken pox), encephalitis, diseases and lesions of the central nervous system or spinal cord (including abscess, Physical trauma, stroke etc.), by radiation poisoning or by various toxic substances, including drugs such as alcohol.
Friesen, Chad - Acrylic paintings by artist with ataxia and a seizure disorder that affects his motor skills and requires that he use a wheelchair. Also a selection of greeting cards.
Section Molecular Neurogenetics - Research on genetics of polyglutamine neurodegeneration, such as Huntington and spinocerebellar ataxia 2, as well as stroke spasticity and Parkinsons disease at Goethe University Hospital, Frankfurt, Germany.
Kids Move - Provides an overview and describes diagnostic methods and treatments for each child movement disorder, including ataxia, bradykinesia, choreoathetosis, dystonia, myoclonus, spasticity, tics, and tremor.
CajunHeart's HomePage - Living Life with Ataxia - Site about me living a positive life despite Friedreich's Ataxia.
Ataxia-Telangiectasia (A-T) Foundation - Information about the foundation's efforts to find a cure for A-T.
A-T Children's Project - A clearinghouse for ataxia-telangiectasia information, including disease information, scientific research, clinical and family support, and fundraising.
Ataxia Telangiectasia Society - Details about the organization which is committed to helping, supporting and advising families affected by AT. Includes research, support and awareness.
National Ataxia Foundation - Information about and support for people with ataxia.
Matthew Law - A personal web site about a life with Friedreich's Ataxia.
Cerebellar Ataxia Investigative Webpage - Offers information and a request for same via email.