- Friedreich's ataxia
- Hereditary spinal ataxia
- Hereditary spinal sclerosis
Your QuestionMy sister has Friedreich's ataxia. I am looking for ways to make her life easier. Can you tell me where I can find out about wheelchairs, exercises, and bathroom accomodations? I would also like to connect with people who can help me.
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Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight.
The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies.
The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
Muscular Dystrophy Association (MDA) - USA
3300 E. Sunrise Drive
Tucson, AZ 85718
Phone: 1-800-FIGHT-MD (344-4863)
Web site: http://www.mdausa.org/
Page about Freidreich ataxia: http://www.mdausa.org/disease/fa.html
Page about special equipment:http://www.mdausa.org/equipment.html
You can also learn about strategies for management such as what has helped for others with Freidreich ataxia through support organizations. There are a number of support organizations for indiviuals with Friedreich ataxia and their families. Please visit the Organizations section of the disease page to find the full contact information. You can also click here to view a list of resources including international resources developed by the Friedriech Ataxia Research Alliance.
- Friedreich ataxia. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/friedreich-ataxia. Accessed 5/22/2015.
- Friedreich's Ataxia Fact Sheet. The National Institute of Neurological Disorders and Stroke (NINDS). April 16, 2014; http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm. Accessed 5/22/2015.