Friedreich's Ataxia Information Page

Friedreich's Ataxia Information Page


What research is being done?

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia

×
What research is being done?

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Male and female children can inherit the disorder.  Danage to the peripheral nerves and the cerbellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes. Friedreich's ataxia is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts.

×
Definition

Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Male and female children can inherit the disorder.  Danage to the peripheral nerves and the cerbellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes. Friedreich's ataxia is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts.

Treatment
Treatment

There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Hearing impairments can be helped with hearing aids.

×
Treatment

There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Hearing impairments can be helped with hearing aids.

Definition
Definition

Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Male and female children can inherit the disorder.  Danage to the peripheral nerves and the cerbellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes. Friedreich's ataxia is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts.

Treatment
Treatment

There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Hearing impairments can be helped with hearing aids.

Prognosis
Prognosis

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair. 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. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s or longer.

x

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair. 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. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s or longer.

Prognosis
Prognosis

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair. 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. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s or longer.

Definition

Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Male and female children can inherit the disorder.  Danage to the peripheral nerves and the cerbellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes. Friedreich's ataxia is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts.

Treatment

There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Hearing impairments can be helped with hearing aids.

Prognosis

Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair. 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. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s or longer.

What research is being done?

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia

Patient Organizations
Friedreich's Ataxia Research Alliance (FARA)
533 W. Uwclan Avenue
Downington
VA
Downington, VA 22151
Tel: 703-426-1576
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington
DC
Washington, DC 20008-2369
Tel: 202-966-5557; 800-336-GENE (4363)
Muscular Dystrophy Association
National Office - 222 S. Riverside Plaza
Suite 1500
Chicago
IL
Chicago, IL 60606
Tel: 800-572-1717
National Ataxia Foundation (NAF)
600 Highway 169 South
Suite 1725
Minneapolis
MN
Minneapolis, MN 55426
Tel: 763-553-0020
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury
CT
Danbury, CT 06810
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Publications

Friedreich's Ataxia fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Patient Organizations