Friedreich ataxia

Title

Other Names:

Friedreich's ataxia; Spinocerebellar ataxia, Friedreich; Hereditary spinal sclerosis; Friedreich's ataxia; Spinocerebellar ataxia, Friedreich; Hereditary spinal sclerosis; Hereditary spinal ataxia; FRDA See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Nervous System Diseases See More

Summary Summary

Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.^[1]

Last updated: 5/22/2015

Symptoms Symptoms

Symptoms usually begin between the ages of 5 and 15 but can, on occasion, appear in adulthood or even as late as age 75. The first symptom to appear is usually difficulty in walking, or gait ataxia. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Over time, muscles begin to weaken and waste away, especially in the feet, lower legs, and hands, and deformities develop. Other symptoms include loss of tendon reflexes, especially in the knees and ankles. There is often a gradual loss of sensation in the extremities, which may spread to other parts of the body. Dysarthria (slowness and slurring of speech) develops, and the person is easily fatigued. Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing.^[2]

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.^[2]

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^[2].

Last updated: 5/22/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Gait ataxia	Obligate (present in 100% of cases)
Babinski sign	Very frequent (present in 80%-99% of cases)
Dysarthria	Very frequent (present in 80%-99% of cases)
Gait imbalance	Very frequent (present in 80%-99% of cases)
Hand muscle atrophy	Very frequent (present in 80%-99% of cases)
Impaired proprioception	Very frequent (present in 80%-99% of cases)
Limb ataxia	Very frequent (present in 80%-99% of cases)
Areflexia of lower limbs	Frequent (present in 30%-79% of cases)
Cardiomyopathy	Frequent (present in 30%-79% of cases)
Cervical spinal cord atrophy	Frequent (present in 30%-79% of cases)
Dysmetria	Frequent (present in 30%-79% of cases)
Falls	Frequent (present in 30%-79% of cases)
Impaired visually enhanced vestibulo-ocular reflex	Frequent (present in 30%-79% of cases)
Intention tremor	Frequent (present in 30%-79% of cases)
Nystagmus	Frequent (present in 30%-79% of cases)
Optic atrophy	Frequent (present in 30%-79% of cases)
Pes cavus	Frequent (present in 30%-79% of cases)
Poor fine motor coordination	Frequent (present in 30%-79% of cases)
Scoliosis	Frequent (present in 30%-79% of cases)
Sensory axonal neuropathy	Frequent (present in 30%-79% of cases)
Urinary bladder sphincter dysfunction	Frequent (present in 30%-79% of cases)
Chorea	Occasional (present in 5%-29% of cases)
Decreased motor nerve conduction velocity	Occasional (present in 5%-29% of cases)
Diabetes mellitus	Occasional (present in 5%-29% of cases)
Dysphagia	Occasional (present in 5%-29% of cases)
Dystonia	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Inability to walk	Occasional (present in 5%-29% of cases)
Incomprehensible speech	Occasional (present in 5%-29% of cases)
Reduced visual acuity	Occasional (present in 5%-29% of cases)
Spasticity	Occasional (present in 5%-29% of cases)
Visual impairment	Occasional (present in 5%-29% of cases)
Abnormal echocardiogram	-
Abnormal EKG	-
Abnormality of visual evoked potentials	-
Autosomal recessive inheritance	-
Congestive heart failure	-
Decreased amplitude of sensory action potentials	-
Decreased pyruvate carboxylase activity	-
Decreased sensory nerve conduction velocity	-
Hypertrophic cardiomyopathy	-
Impaired vibratory sensation	-
Juvenile onset	-
Mitochondrial malic enzyme reduced	-
Sensory neuropathy	-
Visual field defect	-

Last updated: 9/1/2017

Cause Cause

Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear.^[1]

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.^[1]

Last updated: 5/22/2015

Inheritance Inheritance

Friedreich ataxia is inherited in an autosomal recessive manner.^[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated: 11/19/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar ataxia and is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

Friedreich's Ataxia Research Alliance (FARA) has clinical care guidelines that document the diagnosis, treatment and management of Friedreich ataxia.
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Friedreich ataxia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA) is an international network of clinical research centers that work together to advance treatments and clinical care for individuals with Friedreich ataxia. Patients can contact the nearest center to learn about the studies and clinical services being offered.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

Coordination of Rare Diseases at Sanford (CoRDS) hosts a specific registry for patients with ataxia in partnership with the National Ataxia Foundation. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases. The CoRDS registry is free for patients to enroll and for researchers to access.
Friedreich's Ataxia Research Alliance (FARA) has a registry where patients can provide demographic and clinical information. People who register will be informed about opportunities to participate in clinical research studies and kept up-to-date on the progress of clinical trials.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Ataxia UK
12 Broadbent Close
London N6 5JW
United Kingdom
Telephone: 0845 644 0606 or 020 7582 1444
E-mail: helpline@ataxia.org.uk
Website: http://www.ataxia.org.uk
euro-ATAXIA (European Federation of Hereditary Ataxias)
Website: http://www.euro-ataxia.eu
Friedreich's Ataxia Parents' Group
E-mail: info@faparents.org
Website: http://www.faparents.org/fapg/
Friedreich's Ataxia Research Alliance (FARA)
533 W. Uwchlan Ave.
Downingtown, PA 19335
Telephone: (484) 879-6160
Fax: (484) 872-1402
E-mail: info@CureFA.org
Website: http://www.curefa.org/
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 800-572-1717
TTY: 1-800-572-1717
E-mail: mda@mdausa.org
Website: http://www.mdausa.org/
National Ataxia Foundation
2600 Fernbrook Lane
Suite 119
Minneapolis, MN 55447-4752
Telephone: 763-553-0020
Fax: 763-553-0167
E-mail: naf@ataxia.org
Website: http://www.ataxia.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Healthcare Resources

Friedreich's Ataxia Research Alliance (FARA) has information on medical centers that are part of the Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA), as well as other centers where you can find clinical care with providers who are familiar with this condition.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Friedreich's Ataxia Research Alliance (FARA) has page called "What is FA?" that provides information on symptoms, cause, diagnosis, and treatment of Friedreich ataxia.
Genetics Home Reference (GHR) contains information on Friedreich ataxia. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Friedreich ataxia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

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August 30, 2017
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August 10, 2017
Annual "Woodstock" May Speed Cure
July 28, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My 32-year-old brother has Friedreich ataxia and is completely dependent and wheelchair bound. I have lived a normal, healthy life but have read recently that late onset of this condition can occur in individuals from 26 years and older. I am currently 33-years-old. What are my chances of developing Friedreich ataxia later on in life? Should I get tested for it? See answer
My daughter has Friedreich ataxia. Both of her parents are black, and her paternal great grandmother is of Irish descent. How did my daughter inherit this condition, and how can I find other families that are in a similar situation? See answer
My 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. See answer

Have a question? Contact a GARD Information Specialist.

References References

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.

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