1 / 9

Friedreich s Ataxia

What is it?. Friedreich's Ataxia is a rare disease that is brought down through families that effects the heart and muscles.This disease can causes nervous system damage and movement problems.. How is it inherited?. This disease is recessive so it can only be inherited when both parents carry the gene..

rhiannon
Download Presentation

Friedreich s Ataxia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

    1. Friedreichs Ataxia By: Derek Jones

    2. What is it? Friedreich's Ataxia is a rare disease that is brought down through families that effects the heart and muscles. This disease can causes nervous system damage and movement problems.

    3. How is it inherited? This disease is recessive so it can only be inherited when both parents carry the gene.

    4. What gene and chromosome does it affect? Friedreichs is caused by a defect in the gene FXN. The gene FXN is labeled to chromosome 9

    5. Who gets the disorder? Friedreichs is the most common form of hereditary ataxia It is only affecting about 1 in every 50,000 in the United States Both female and male children can inherit this disorder

    6. Treatments There is no current cure or effective treatment for the disease Some symptoms can be treated by perscribed drugs by the patients doctor Physical Therapy is may help with use of the arms and legs

    7. Genetic Testing Children whose parents both carry the disease have a 25% chance of being unaffected, 50% chance of being a carrier, and a 25% chance of being affected by the disease.

    8. Current Research Researchers have began to understand the causes They have also began to develop effective treatments for patients Scientists are also experimenting with drug treatments.

    9. Pictures and Diagrams

    10. References Friedreichs Ataxia November 22, 2010: <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002384/> Friedreichs Ataxia Fact Sheet. Febuary 16, 2011: http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm Friedreichs Ataxia December 2010: http://www.geneticfutures.com/thegift/info/sheet7.asp Friedreichs Ataxia 1997: http://www.ncbi.nlm.nih.gov/books/NBK22222/ Friedreichs Ataxia (FA) 2010: <http://www.mdausa.org/disease/fa.html>

More Related