logging in or signing up Ataxia Telangiectasia cmcgill1234 Download Post to : URL : Related Presentations : Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Uploaded from authorPOINT lite Insert YouTube videos in PowerPont slides with aS Desktop Copy embed code: (To copy code, click on the text box) Embed: URL: Thumbnail: WordPress Embed Customize Embed The presentation is successfully added In Your Favorites. Views: 89 Category: Education License: All Rights Reserved Like it (0) Dislike it (0) Added: February 04, 2012 This Presentation is Public Favorites: 0 Presentation Description his presentation on Ataxia-Telangiecstasia was developed for Lee Ann Jung's IEC 522 class on Working with Families at the University of Kentucky Comments Posting comment... Premium member Presentation Transcript Ataxia Telangiectasia By Sheryl McGill: Ataxia Telangiectasia By Sheryl McGill This presentation on Ataxia Telangiectasia was developed for Lee Ann Jung’s IEC/EDS 522 class on Working with Families at the University of Kentucky .What is Ataxia-Telangiectasia?: What is Ataxia-Telangiectasia? Ataxia means loss of voluntary muscle control, resulting in lack of balance and coordination Telangiectasia - A condition characterized by dilation of the capillaries, which causes them to appear as small red or purple clusters, often spidery in appearance, on the skin or the surface of an organSigns and Symptoms: Signs and Symptoms Abnormal Gait (ataxia) and Posture Slurred speech and drooling Difficulty with eye movements Abnormal swallowing Intellect Skin Immune System Immunodeficiency – low levels of immunoglobulin and/or white blood cells in the blood Predisposition to develop cancer Growth and endocrine systemHow Frequent is A-T?: How Frequent is A-T? 1 in 40,00 live births Equal number of males and females May be more common due to not being properly diagnosed Approximately 350 children in USHow is A-T Diagnosed?: How is A-T Diagnosed? Detailed patient history Blood tests MRI karyotypingEtiology: Etiology Inherited recessive genetic disorder ATM gene ATM proteinTreatment: Treatment Control of symptoms -sinus and lung infections -nutrition -swallowing -sun exposure Physical and Occupational Therapy Speech and Language TherapyPrognosis: Prognosis Most early teens and twenties Some forties and fiftiesOrganizations Related to A-T: Organizations Related to A-T American Cancer Society, Inc. 1599 Clifton Road NE Atlanta, GA 30329 USA 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 USA Phone #: 818-906-2861 800 #: -- e-mail: atmrf@aol.com Home page: N/A A-T Children's Project (Ataxia Telangiectasia Children's Project) 5300 W. Hillsboro Blvd. #105 Coconut Creek, FL 33073 USA Phone #: 954-481-6611 800 #: 800-543-5728 e-mail: info@atcp.org Home page: http://www.communityatcp.org A-T Ease Foundation, Inc. 217 Thompson Street Suite 404 New York, NY 10012 info@ateasefoundation.org http://www.ateasefoundation.org Tel: 212-529-0622 Fax: 212-505-8031 Canadian Association for Familial Ataxias - Claude St-Jean Foundation 3800 Radisson Street Suite 110 Montreal Quebec, Intl H1M 1X6 Canada Phone #: (51-4) -321-8684 800 #: -- e-mail: ataxie@lacaf.org Home page: http://www.lacaf.orgOrganizations Related to A-T: Organizations Related to A-T Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Phone #: 301-251-4925 800 #: 888-205-2311 e-mail: N/A Home page: http://rarediseases.info.nih.gov/GARD/ 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 Movement Disorder Society 555 E. Wells Street Suite 1100 Milwaukee, WI 53202-3823 Phone #: 414-276-2145 800 #: N/A e-mail: info@movementdisorders.org Home page: http://www.movementdisorders.org MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Phone #: 920-336-5333 800 #: 877-336-5333 e-mail: mums@netnet.netOrgan Home page: http://www.netnet.net/mums/ National Ataxia Foundation 2600 Fernbrook Lane Suite 119 Minneapolis, MN 55447 USA Phone #: 763-553-0020 800 #: -- e-mail: naf@ataxia.org Home page: http://www.ataxia.org NIH/National Institute of Neurological Disorders and Stroke 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 /Resources: Resources A-T Children’s Project - http:// www.communityatcp.org Brad Paisley “Hard Life” Youtube Genetic and Rare Diseases (GARD) Information Center - http://rarediseases.info.nih.gov/GARD / NIH/National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/ NORD Website – www.raredisease.org You do not have the permission to view this presentation. In order to view it, please contact the author of the presentation.
Ataxia Telangiectasia cmcgill1234 Download Post to : URL : Related Presentations : Share Add to Flag Embed Email Send to Blogs and Networks Add to Channel Uploaded from authorPOINT lite Insert YouTube videos in PowerPont slides with aS Desktop Copy embed code: (To copy code, click on the text box) Embed: URL: Thumbnail: WordPress Embed Customize Embed The presentation is successfully added In Your Favorites. Views: 89 Category: Education License: All Rights Reserved Like it (0) Dislike it (0) Added: February 04, 2012 This Presentation is Public Favorites: 0 Presentation Description his presentation on Ataxia-Telangiecstasia was developed for Lee Ann Jung's IEC 522 class on Working with Families at the University of Kentucky Comments Posting comment... Premium member Presentation Transcript Ataxia Telangiectasia By Sheryl McGill: Ataxia Telangiectasia By Sheryl McGill This presentation on Ataxia Telangiectasia was developed for Lee Ann Jung’s IEC/EDS 522 class on Working with Families at the University of Kentucky .What is Ataxia-Telangiectasia?: What is Ataxia-Telangiectasia? Ataxia means loss of voluntary muscle control, resulting in lack of balance and coordination Telangiectasia - A condition characterized by dilation of the capillaries, which causes them to appear as small red or purple clusters, often spidery in appearance, on the skin or the surface of an organSigns and Symptoms: Signs and Symptoms Abnormal Gait (ataxia) and Posture Slurred speech and drooling Difficulty with eye movements Abnormal swallowing Intellect Skin Immune System Immunodeficiency – low levels of immunoglobulin and/or white blood cells in the blood Predisposition to develop cancer Growth and endocrine systemHow Frequent is A-T?: How Frequent is A-T? 1 in 40,00 live births Equal number of males and females May be more common due to not being properly diagnosed Approximately 350 children in USHow is A-T Diagnosed?: How is A-T Diagnosed? Detailed patient history Blood tests MRI karyotypingEtiology: Etiology Inherited recessive genetic disorder ATM gene ATM proteinTreatment: Treatment Control of symptoms -sinus and lung infections -nutrition -swallowing -sun exposure Physical and Occupational Therapy Speech and Language TherapyPrognosis: Prognosis Most early teens and twenties Some forties and fiftiesOrganizations Related to A-T: Organizations Related to A-T American Cancer Society, Inc. 1599 Clifton Road NE Atlanta, GA 30329 USA 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 USA Phone #: 818-906-2861 800 #: -- e-mail: atmrf@aol.com Home page: N/A A-T Children's Project (Ataxia Telangiectasia Children's Project) 5300 W. Hillsboro Blvd. #105 Coconut Creek, FL 33073 USA Phone #: 954-481-6611 800 #: 800-543-5728 e-mail: info@atcp.org Home page: http://www.communityatcp.org A-T Ease Foundation, Inc. 217 Thompson Street Suite 404 New York, NY 10012 info@ateasefoundation.org http://www.ateasefoundation.org Tel: 212-529-0622 Fax: 212-505-8031 Canadian Association for Familial Ataxias - Claude St-Jean Foundation 3800 Radisson Street Suite 110 Montreal Quebec, Intl H1M 1X6 Canada Phone #: (51-4) -321-8684 800 #: -- e-mail: ataxie@lacaf.org Home page: http://www.lacaf.orgOrganizations Related to A-T: Organizations Related to A-T Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Phone #: 301-251-4925 800 #: 888-205-2311 e-mail: N/A Home page: http://rarediseases.info.nih.gov/GARD/ 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 Movement Disorder Society 555 E. Wells Street Suite 1100 Milwaukee, WI 53202-3823 Phone #: 414-276-2145 800 #: N/A e-mail: info@movementdisorders.org Home page: http://www.movementdisorders.org MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Phone #: 920-336-5333 800 #: 877-336-5333 e-mail: mums@netnet.netOrgan Home page: http://www.netnet.net/mums/ National Ataxia Foundation 2600 Fernbrook Lane Suite 119 Minneapolis, MN 55447 USA Phone #: 763-553-0020 800 #: -- e-mail: naf@ataxia.org Home page: http://www.ataxia.org NIH/National Institute of Neurological Disorders and Stroke 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 /Resources: Resources A-T Children’s Project - http:// www.communityatcp.org Brad Paisley “Hard Life” Youtube Genetic and Rare Diseases (GARD) Information Center - http://rarediseases.info.nih.gov/GARD / NIH/National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/ NORD Website – www.raredisease.org