BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuFriedreich ataxiaFriedreich's ataxia; Spinocerebellar degenerationFriedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart. Causes Friedreich ataxia is caused by a defect in a gene called frataxin (FXN). Changes in this gene cause the body to make too much of a part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. People with Friedreich ataxia have as many as 1,000 copies. The more copies of GAA a person has, the earlier in life the disease starts and the faster it gets worse.Friedreich ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article Symptoms Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and other functions. Symptoms most often begin before puberty. Symptoms may include:Abnormal speech Changes in vision, particularly color vision Decrease in ability to feel vibrations in lower limbs Foot problems, such as hammer toe and high arches Hammer toeHammer toe is a deformity of the toe. The end of the toe is bent downward.ImageRead Article Now Book Mark Article High archesHigh arch is a foot arch that is raised more than normal. The arch runs from the toes to the heel on the bottom of the foot. It is also called pes ...Read Article Now Book Mark Article Hearing loss, this occurs in about 10% of people Jerky eye movements Jerky eye movementsNystagmus is a term to describe uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nystagmus)R...ImageRead Article Now Book Mark Article Loss of coordination and balance, which leads to frequent falls Loss of coordinationUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Muscle weakness Muscle weaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article No reflexes in the legs Unsteady gait and uncoordinated movements (ataxia), which gets worse with time Unsteady gaitWalking abnormalities can be caused by many different types of problems. Problems with the joints, (such as arthritis), bones (such as deformities),...ImageRead Article Now Book Mark Article AtaxiaUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Muscle problems lead to changes in the spine. This may result in scoliosis or kyphoscoliosis.ScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article KyphoscoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Heart disease most often develops and may lead to heart failure. Heart failure or dysrhythmias that do not respond to treatment may result in death. Diabetes may develop in later stages of the disease.Heart diseaseCoronary heart disease is a narrowing of the blood vessels that supply blood and oxygen to the heart. Coronary heart disease (CHD) is also called co...ImageRead Article Now Book Mark Article Heart failureHeart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...ImageRead Article Now Book Mark Article DysrhythmiasAn arrhythmia is a disorder of the heart rate (pulse) or heart rhythm. The heart can beat too fast (tachycardia), too slow (bradycardia), or irregul...ImageRead Article Now Book Mark Article DiabetesDiabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.ImageRead Article Now Book Mark Article Exams and Tests The following tests may be done:ECG ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article Electrophysiological studies EMG (electromyography) EMGElectromyography (EMG) is a test that checks the health of the muscles and the nerves that control the muscles.ImageRead Article Now Book Mark Article Genetic testing Nerve conduction tests Nerve conduction testsNerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography (EM...ImageRead Article Now Book Mark Article Muscle biopsy Muscle biopsyA muscle biopsy is the removal of a small piece of muscle tissue for examination.ImageRead Article Now Book Mark Article X-ray, CT scan, or MRI of the head X-rayX-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray waves through the body. The images...ImageRead Article Now Book Mark Article CTA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article X-ray of the chest X-ray of the chestA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article X-ray of the spineX-ray of the spineA thoracic spine x-ray is an x-ray of the 12 chest (thoracic) bones (vertebrae) of the spine. The vertebrae are separated by flat pads of cartilage ...ImageRead Article Now Book Mark Article Blood sugar (glucose) tests may show diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which most often occurs without symptoms. Treatment Treatment for Friedreich ataxia includes:Counseling Speech therapy Physical therapy Walking aids or wheelchairs Orthopedic devices (braces) may be needed for scoliosis and foot problems. Treating heart disease and diabetes help people live longer and improve their quality of life. Outlook (Prognosis) Friedreich ataxia slowly gets worse and causes problems doing everyday activities. Most people need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death. Possible Complications Complications may include:Diabetes Heart failure or heart disease Loss of ability to move around When to Contact a Medical Professional Contact your health care provider if symptoms of Friedreich ataxia occur, especially if there is a family history of the disorder. Prevention People with a family history of Friedreich ataxia who intend to have children may want to consider genetic screening to determine their risk.Open ReferencesReferencesMink JW. Movement disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 615.Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 35.AllVideoImagesTogCentral nervous system and peripheral nervous system - illustration The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.Central nervous system and peripheral nervous systemillustrationCentral nervous system and peripheral nervous system - illustration The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.Central nervous system and peripheral nervous systemillustrationRelated Information Autosomal recessive(Special Topic) Review Date: 10/31/2022 Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Friedreich ataxiaFriedreich's ataxia; Spinocerebellar degenerationFriedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart. Causes Friedreich ataxia is caused by a defect in a gene called frataxin (FXN). Changes in this gene cause the body to make too much of a part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. People with Friedreich ataxia have as many as 1,000 copies. The more copies of GAA a person has, the earlier in life the disease starts and the faster it gets worse.Friedreich ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article Symptoms Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and other functions. Symptoms most often begin before puberty. Symptoms may include:Abnormal speech Changes in vision, particularly color vision Decrease in ability to feel vibrations in lower limbs Foot problems, such as hammer toe and high arches Hammer toeHammer toe is a deformity of the toe. The end of the toe is bent downward.ImageRead Article Now Book Mark Article High archesHigh arch is a foot arch that is raised more than normal. The arch runs from the toes to the heel on the bottom of the foot. It is also called pes ...Read Article Now Book Mark Article Hearing loss, this occurs in about 10% of people Jerky eye movements Jerky eye movementsNystagmus is a term to describe uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nystagmus)R...ImageRead Article Now Book Mark Article Loss of coordination and balance, which leads to frequent falls Loss of coordinationUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Muscle weakness Muscle weaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article No reflexes in the legs Unsteady gait and uncoordinated movements (ataxia), which gets worse with time Unsteady gaitWalking abnormalities can be caused by many different types of problems. Problems with the joints, (such as arthritis), bones (such as deformities),...ImageRead Article Now Book Mark Article AtaxiaUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Muscle problems lead to changes in the spine. This may result in scoliosis or kyphoscoliosis.ScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article KyphoscoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Heart disease most often develops and may lead to heart failure. Heart failure or dysrhythmias that do not respond to treatment may result in death. Diabetes may develop in later stages of the disease.Heart diseaseCoronary heart disease is a narrowing of the blood vessels that supply blood and oxygen to the heart. Coronary heart disease (CHD) is also called co...ImageRead Article Now Book Mark Article Heart failureHeart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...ImageRead Article Now Book Mark Article DysrhythmiasAn arrhythmia is a disorder of the heart rate (pulse) or heart rhythm. The heart can beat too fast (tachycardia), too slow (bradycardia), or irregul...ImageRead Article Now Book Mark Article DiabetesDiabetes is a long-term (chronic) disease in which the body cannot regulate the amount of sugar in the blood.ImageRead Article Now Book Mark Article Exams and Tests The following tests may be done:ECG ECGAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.ImageRead Article Now Book Mark Article Electrophysiological studies EMG (electromyography) EMGElectromyography (EMG) is a test that checks the health of the muscles and the nerves that control the muscles.ImageRead Article Now Book Mark Article Genetic testing Nerve conduction tests Nerve conduction testsNerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography (EM...ImageRead Article Now Book Mark Article Muscle biopsy Muscle biopsyA muscle biopsy is the removal of a small piece of muscle tissue for examination.ImageRead Article Now Book Mark Article X-ray, CT scan, or MRI of the head X-rayX-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray waves through the body. The images...ImageRead Article Now Book Mark Article CTA computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...ImageRead Article Now Book Mark Article MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article X-ray of the chest X-ray of the chestA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article X-ray of the spineX-ray of the spineA thoracic spine x-ray is an x-ray of the 12 chest (thoracic) bones (vertebrae) of the spine. The vertebrae are separated by flat pads of cartilage ...ImageRead Article Now Book Mark Article Blood sugar (glucose) tests may show diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which most often occurs without symptoms. Treatment Treatment for Friedreich ataxia includes:Counseling Speech therapy Physical therapy Walking aids or wheelchairs Orthopedic devices (braces) may be needed for scoliosis and foot problems. Treating heart disease and diabetes help people live longer and improve their quality of life. Outlook (Prognosis) Friedreich ataxia slowly gets worse and causes problems doing everyday activities. Most people need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death. Possible Complications Complications may include:Diabetes Heart failure or heart disease Loss of ability to move around When to Contact a Medical Professional Contact your health care provider if symptoms of Friedreich ataxia occur, especially if there is a family history of the disorder. Prevention People with a family history of Friedreich ataxia who intend to have children may want to consider genetic screening to determine their risk.Open ReferencesReferencesMink JW. Movement disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 615.Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 35.