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Copyright 1987, 1990, 1992, 1996, 1997, 1998, 1999, 2000, 2004, 2007
Synonyms of Ataxia Telangiectasia
- AT
- Cerebello-Oculocutaneous Telangiectasia
- Immunodeficiency with Ataxia Telangiectasia
- Louis-Bar Syndrome
Disorder Subdivisions
General Discussion
Ataxia telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia); the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia); and impaired functioning of the immune system (i.e., cellular and humoral immunodeficiency), resulting in increased susceptibility to upper and lower respiratory infections (sinopulmonary infections). Individuals with AT also have an increased risk of developing certain malignancies, particularly of the lymphatic system (lymphomas), the blood-forming organs (e.g., leukemia), and the brain.
In those with AT, progressive ataxia typically develops during infancy and may initially be characterized by abnormal swaying of the head and trunk. As the disease progresses, the condition leads to an inability to walk (ambulation) by late childhood or adolescence. Ataxia is often accompanied by difficulty speaking (dysarthria); drooling; and an impaired ability to coordinate certain eye movements (oculomotor apraxia), including the occurrence of involuntary, rapid, rhythmic motions (oscillations) of the eyes while attempting to focus upon certain objects (fixation nystagmus). Affected children may also develop an unusually stooped posture and irregular, rapid, jerky movements that may occur in association with relatively slow, writhing motions (choreoathetosis). In addition, telangiectasias may develop by mid-childhood, often appearing on sun-exposed areas of the skin, such as the bridge of the nose, the ears, and certain regions of the extremities, as well as the mucous membranes of the eyes (conjunctiva).
AT is inherited as an autosomal recessive trait. The disorder is caused by changes (mutations) of a gene known as ATM (for "AT mutated") that has been mapped to the long arm (q) of chromosome 11 (11q22.3). The ATM gene controls (encodes for) the production of an enzyme that plays a role in regulating cell division following DNA damage.
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Organizations related to Ataxia Telangiectasia
- A-T Children's Project (Ataxia Telangiectasia Children's Project)
5300 W. Hillsboro Blvd. Suite 105
Coconut Creek FL 33073
Phone #: 954-481-6611
800 #: 800-543-5728
e-mail: info@atcp.org
Home page: http://www.atcp.org
- American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta GA 30329
Phone #: 404-320-3333
800 #: 800-227-2345
e-mail: N/A
Home page: http://www.cancer.org
- American Diabetes Association
1701 N. Beauregard Street
Alexandria VA 22311
Phone #: 703-549-1500
800 #: 800-342-2383
e-mail: askADA@diabetes.org
Home page: http://www.diabetes.org
- Ataxia Telangiectasia (A-T) Medical Research Foundation
16224 Elisa Place
Encino CA 91436
Phone #: 818-906-2861
800 #: --
e-mail: atmrf@aol.com
Home page: N/A
- Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Suite 110
Montreal
Quebec Intl H1M 1X6
Phone #: (51-4) -321-8684
800 #: --
e-mail: ataxie@lacaf.org
Home page: http://www.lacaf.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis MN 55447-4752
Phone #: 763-553-0020
800 #: --
e-mail: naf@ataxia.org
Home page: http://www.ataxia.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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