Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.
In Friedreichs ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).
Friedreichs ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent. Although rare, Friedreichs ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.
Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment.
Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreichs ataxia develop hearing and vision loss.
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's ataxia, such as hypertrophic 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's ataxia develop carbohydrate intolerance and 10 percent develop diabetes. Most individuals with Friedreichs ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu.
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 may become completely incapacitated.
Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich's ataxia live into their sixties, seventies, or older.
A diagnosis of Friedreich's ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include:
Read more:
Friedreich's Ataxia Fact Sheet: National Institute of ...
- Cerebellar ataxia [Last Updated On: August 18th, 2024] [Originally Added On: May 9th, 2011]
- Ataxia 05 The Empty's Responce [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia - The Empty's Response [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia - The Empty's Response [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- Ataxia 05 The Empty's Responce [Last Updated On: August 18th, 2024] [Originally Added On: May 10th, 2011]
- spinocerebellar ataxia [Last Updated On: August 18th, 2024] [Originally Added On: May 16th, 2011]
- Ataxic Dysarthria speaker give Toastmaster Speech 4 w/minimal reading or notes [Last Updated On: August 18th, 2024] [Originally Added On: June 8th, 2011]
- Introduction to Friedreich's Ataxia and FARA [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Introduction to Friedreich's Ataxia and FARA [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Friedreich Ataxia [Last Updated On: August 18th, 2024] [Originally Added On: June 10th, 2011]
- Ataxia telangiectasia -- Dr.J.Bhaskar - Part 1 of 2 [Last Updated On: August 18th, 2024] [Originally Added On: June 19th, 2011]
- Abnormal Gait Exam : Ataxic Gait Demonstration [Last Updated On: August 18th, 2024] [Originally Added On: June 30th, 2011]
- Ataxia The Soldier live [Last Updated On: August 18th, 2024] [Originally Added On: July 12th, 2011]
- David Blair - Spinocerebellar Ataxia [Last Updated On: August 18th, 2024] [Originally Added On: July 18th, 2011]
- Ataxic Cerebral Palsy [Last Updated On: August 18th, 2024] [Originally Added On: July 23rd, 2011]
- Cerebral Palsy: Diagnosis [Last Updated On: August 18th, 2024] [Originally Added On: July 29th, 2011]
- Ataxia - Stem Cell Treatment TV Special (Part 1) [Last Updated On: August 18th, 2024] [Originally Added On: August 4th, 2011]
- Joseph, Friedreich's Ataxia, before stem cell treatment at Tiantan Puhua Hospital Beijing [Last Updated On: August 18th, 2024] [Originally Added On: September 18th, 2011]
- Joseph, Friedreich's Ataxia, before stem cell treatment at Tiantan Puhua Hospital Beijing [Last Updated On: August 18th, 2024] [Originally Added On: September 18th, 2011]
- Martin - Ataxia Stem Cell Patient [Last Updated On: August 18th, 2024] [Originally Added On: October 6th, 2011]
- Ataxia - The Sides (Music Video) [Last Updated On: August 18th, 2024] [Originally Added On: October 6th, 2011]
- Brian - Ataxia Survivor Part 1 - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 14th, 2011]
- Kyle Bryant on Living With Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 29th, 2011]
- Kyle Bryant on Living With Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: October 29th, 2011]
- Webcast : Ataxia Telangiectasia (AT) - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 10th, 2011]
- Friedreich Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 13th, 2011]
- Spinocerebellar Ataxia Disease - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 14th, 2011]
- Ataxia Angel : Marguerite Black - Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 20th, 2011]
- Ataxia Angel : Marguerite Black - Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: November 20th, 2011]
- Ataxic Dysarthria Toastmaster speech 18 - Video [Last Updated On: August 18th, 2024] [Originally Added On: December 14th, 2011]
- Ataxia -addition (LIVE) - Video [Last Updated On: August 18th, 2024] [Originally Added On: December 18th, 2011]
- What is Ataxia? - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 8th, 2012]
- Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 12th, 2012]
- Episodic Ataxia Documentary - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 16th, 2012]
- Living with Cerebellar Hypoplasia (Ataxia) - Ethans Story - Video [Last Updated On: August 18th, 2024] [Originally Added On: January 25th, 2012]
- BBC - My Autism and Me - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Autism Speaks/Ad Council Awareness PSA featuring Tommy Hilfiger - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Apps for Autism - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- 10-Year-Old Blind Autistic Boy Sings "Open the Eyes of my Heart" - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Illinois Company Seeks Adults With Autism - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- 10-Year-Old Blind Autistic Boy Sings "Open the Eyes of my Heart" - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 6th, 2012]
- Jeremy Davidson on the Freidrich's Ataxia Research Alliance - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jeremy Davidson on the Freidrich's Ataxia Research Alliance - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia resulting from brain tumour in 3 year old girl. - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Fighting Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Fighting Friedreich's Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Cerebellar Ataxia: Informative Speech - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Within The Ruins - Ataxia (BEST QUALITY W/DOWNLOAD LINK) - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia- The Sides - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Joseph, Friedreich's Ataxia, after stem cell treatment at Tiantan Puhua Hospital Beijing - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Joseph, Friedreich's Ataxia, after stem cell treatment at Tiantan Puhua Hospital Beijing - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jospeh, Friedreich's Ataxia, physical therapy after stem cell treatment - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Ataxia / Ataxic Dysarthria Alice_Speech_11.MOD - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- Jospeh, Friedreich's Ataxia, physical therapy after stem cell treatment - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- H1N1 Vaccine (Nasal Mist): Ataxia Side Effects - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 9th, 2012]
- ViroPharma to Release 2011 Fourth Quarter and Full Year Financial Results on February 28, 2012 [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- PRINCETON: Contest to raise funds for boy with rare disease [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- Wish granted for Penta student [Last Updated On: August 18th, 2024] [Originally Added On: February 16th, 2012]
- Working with Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- Opsoclonus Myoclonus Ataxia - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- More on movement disorders [Last Updated On: August 18th, 2024] [Originally Added On: February 24th, 2012]
- In Saguenay, a family takes on a disease that haunts the region [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Exciting developments [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Ataxia Long Term Disability.MOD - Dysarthria speaker gives Long Term Disability Toastmaster speech - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 26th, 2012]
- Rare disease strikes family [Last Updated On: August 18th, 2024] [Originally Added On: February 28th, 2012]
- Ataxia - Ataxic gait - Video [Last Updated On: August 18th, 2024] [Originally Added On: February 28th, 2012]
- Evie Read is an active five-year-old - but ataxia-telangiectasia will rob her of ability to speak and walk while ... [Last Updated On: August 18th, 2024] [Originally Added On: February 29th, 2012]
- Denton bike riders aim to beat rare disease [Last Updated On: August 18th, 2024] [Originally Added On: March 26th, 2012]
- Multiple Sclerosis Patients Find Improvement in Walking with BalanceWear® [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Cypress resident crowned Little Miss Wheelchair Texas [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Man charged with leaving mercury in Albany Med cafeteria now facing federal charges [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Interim results of VITOBA™ (VImpaT® added to One Baseline AED) Study Presented at the 64th Annual Meeting of the ... [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Man arrested or planting mercury at Albany Med faces federal charges [Last Updated On: August 18th, 2024] [Originally Added On: April 26th, 2012]
- Davis bike ride to raise funds for disease [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- Searching for a cure [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- ViroPharma to Participate in Two May Healthcare Investor Conferences [Last Updated On: August 18th, 2024] [Originally Added On: May 3rd, 2012]
- Veterinary Q&A: Outdoor plants and your pets [Last Updated On: August 18th, 2024] [Originally Added On: May 11th, 2012]
- Veterinary Q&A: Outdoor plants and your pets [Last Updated On: August 18th, 2024] [Originally Added On: May 11th, 2012]
- Sam Bridgman: The University of Portland comes together to help support one of its own [Last Updated On: August 18th, 2024] [Originally Added On: May 25th, 2012]
- Prayer for Mercy: Henderson family seeks a cure for 6-year-old's unique condition [Last Updated On: August 18th, 2024] [Originally Added On: May 25th, 2012]