A collection of resources for individuals and families affected by FA.
Friedreich’s Ataxia (FA) is a recessive form of Ataxia. It is caused by a genetic mutation that is passed on from parents to their children. For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia? page. This page contains NAF’s resources that are specific to FA.
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Presented by David Lynch, MD, PhD
Friedreich’s Ataxia is one of the most common recessive Ataxias. This webinar covers the causes and symptoms of FA, the typical diagnostic journey for those affected, and what to expect for clinical care.
Presented by Marek Napierala, PhD
This webinar covers how FA is studied and gives an overview of the current state of research and drug development for the disease.
There is currently one FDA-approved medicine to treat Friedreich’s Ataxia. Learn more: FDA Approves First Treatment for Friedreich’s Ataxia.
Friedreich’s Ataxia Research Alliance (FARA) maintains a visual tool to track the progress of research and development of the lead therapeutic candidates.
Participating in a research study or clinical trial is one way to take an active role in furthering understanding and treatment of Ataxia. It is also a way to get access to new treatment options before they are widely available. To find studies that are enrolling patients, visit our Help Develop New Treatments page.
Friedreich’s Ataxia is an inherited disease of the central nervous system. It was named after Nikolaus Friedreich, who first described it in 1863, and it was the first form of hereditary Ataxia to be distinguished from other forms of Ataxia. FA is the most common form of childhood onset Ataxia. In the United States, it is estimated that about 1 in 100 people is a carrier of the altered FXN gene and one out of every 20,000 to 50,000 is affected with Friedreich’s Ataxia. In some regions or ethnic groups this number might be a little higher or lower. Symptoms usually begin between the age of 5 and 25 but occasionally appear in younger children or adults in their 30s or 40s.
Difficulty with balance (disequilibrium), impaired coordination of the legs or arms, and thick or slurred speech. A speech disorder (dysarthria) is usually the first symptoms of Friedreich Ataxia. Over time, problems with coordination and speech are likely to worsen. Curvature of the spine (kyphoscoliosis) and high arches in the feet. (pescavus) commonly develop. Affected individuals might notice difficulty knowing where their feet or hands are in space (impaired position sense) and they may develop weakness in the legs and hands.
Enlargement of the heart, irregular heartbeat, or other symptoms of heart trouble (cardiomyopathy) occur in many individuals with Friedreich Ataxia. Heart problems range from mild to severe. Diabetes mellitus is not uncommon.
Late in the course of the disease, about 10 percent of individuals with FA have a hearing loss, and a similar percentage develop loss of visual acuity or change in color vision. Another late-stage symptom in about 50 percent of affected people is difficulty with bladder control (incontinence).
Friedreich’s Ataxia is an inherited genetic disorder. It is caused by an abnormality of a single gene called the Frataxin (FXN) gene. The abnormality can be passed from generation to generation by family members who carry it. Males and females are equally likely to inherit the genes that cause FA.
Inherited diseases like FA occurs when one pair of the body’s 20,000 genes does not work properly. (Genes are microscopic structures within the cells of our bodies that contain instructions for every feature we inherit from our parents. Two copies of each gene are inherited; one copy from the mother and one from the father.) FA is autosomal recessive, which means that an individual only develops symptoms of the disease if both copies of his/her frataxin gene are not working properly.
An individual who has one copy of an altered or nonfunctioning FXN gene does not develop any neurological symptoms and is called a carrier. For people who are carriers, the normal frataxin gene compensates for the nonfunctioning copy of the gene, however, a child whose parents are both carriers can inherit a “double dose” of the altered FXN gene and will therefore develop FRDA. Most of the time carriers have no idea that they have an abnormal FXN gene because they do not have symptoms or medical problems that go along with being a carrier. It is often only when a child is diagnosed with FA that the parents learn, that they are both carriers. When both parents are carriers, each of their children has a 25 percent change of having FA and a 50 percent chance of being a carrier.
When symptoms resembling those of FA appear it is important to receive a thorough medical evaluation by a neurologist. Generally, an evaluation will involve a
physical exam and test to search for abnormalities in the brain and spinal cord. Many of these tests are done to ruse out other possible causes of symptoms. (Other possible causes might include nutritional deficiencies, infections, multiple sclerosis, herniated disc in the neck, stroke, brain and spinal cord tumors,
and other degenerative diseases.)
Since the discovery of the FXN gene in 1996, it has been possible to make a specific diagnosis of FA by a gene test. In almost all cases, scientists can identify the abnormality in the frataxin protein, which is one of the thousands of proteins needed for the body to function properly. Levels of frataxin in the spinal cord and brain are much lower than normal in individuals with FA. However, it is more practical to test the FXN gene in blood cells than to measure frataxin protein levels in the nervous system.
Diagnosis of FA is made by genetic testing. In individuals with the typical clinical course, ancillary testing (EMG, MRI, CT) is unnecessary, though it may be useful in atypical patients. Appropriate specialists may be consulted such as a heart specialist, ophthalmologist, audiologist (hearing specialist), orthopedist (bone specialist), urologist, or endocrinologist (diabetes).
SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit SCAsource to see their full collection. Here is a collection of articles about Friedreich’s Ataxia.
Location: University of Minnesota, MN, USA Year Research Group Founded: 2008 What disease areas do you research? Ataxia (SCA1, SCA2, SCA3, SCA6, Friedreich Ataxia) Multiple System Atrophy – Cerebellar Ataxia Huntington’s Read More…
Principal Investigator: Dr. Maurizio Petrarca Location: Bambino Gesù Children Hospital, Rome, Italy Year Founded: 2000 What disease areas do you research? Friedreich’s ataxia Early-onset ataxia Non-Progressive Cerebellar Ataxia Hereditary Spastic Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Ronald Buijsen Researchers from the University of California show they can “edit” the Frataxin gene in human cells from Friedreich’s Ataxia and Read More…
A new therapeutic compound shows promise to treat Friedrich’s ataxia. What is Friedrich’s ataxia (FA)? Friedrich’s ataxia is a genetic neurodegenerative disease that affects many organs, most notably nerves, muscles, Read More…
What are C. elegans? If you read the title of this article and had no idea what Caenorhabditis elegans are, you are not alone! Caenorhabditis elegans, more commonly known as Read More…
Written by Dr. David Bushart Edited by Dr. Sriram Jayabal How can employment be made more accessible for ataxia patients? What barriers exist? A study of workers and non-workers with Read More…
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