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Friedreich's Ataxia

What is Friedreich's Ataxia?

Friedreich Ataxia (FA) is a rare, inherited condition that results in progressive nervous system damage and movement problems. The condition was first described in the 1860s by a German doctor called Nikolaus Friedreich, hence its name. FA usually occurs in childhood with a typical age of onset being between 10 and 15 years. The disease causes nerve fibers in the spinal cord and peripheral nerves to degenerate, becoming thinner. Peripheral nerves communicate information between the brain and the body, such as signaling the muscles to start moving or informing the brain that the hands are cold. The cerebellum, which is a part of the brain responsible for balance and movement coordination, can also degenerate. As a result, initial symptoms of FA may include unsteady posture, frequent falling, and progressive difficulty to walk due to the impaired muscle coordination (ataxia). Affected individuals often develop slurred speech, characteristic foot deformities, problems in the heart, diabetes, and an irregular curvature of the spine (scoliosis). FA is caused by a mutation in the gene FXN and is an inherited condition. Individuals who inherit two defective copies of this gene, one from each parent, will develop the condition. The rate by which FA progresses varies from person to person, and the prognosis can also differ depending on the severity of FA features.

 

Friedreich Ataxia (FA) is a rare, inherited condition that results in progressive nervous system damage and movement problems. The condition was first described in the 1860s by a German doctor called Nikolaus Friedreich, hence its name. FA usually occurs in childhood with a typical age of onset being between 10 and 15 years. The disease causes nerve fibers in the spinal cord and peripheral nerves to degenerate, becoming thinner. Peripheral nerves communicate information between the brain and the body, such as signaling the muscles to start moving or informing the brain that the hands are cold. The cerebellum, which is a part of the brain responsible for balance and movement coordination, can also degenerate. As a result, initial symptoms of FA may include unsteady posture, frequent falling, and progressive difficulty to walk due to the impaired muscle coordination (ataxia). Affected individuals often develop slurred speech, characteristic foot deformities, problems in the heart, diabetes, and an irregular curvature of the spine (scoliosis). FA is caused by a mutation in the gene FXN and is an inherited condition. Individuals who inherit two defective copies of this gene, one from each parent, will develop the condition. The rate by which FA progresses varies from person to person, and the prognosis can also differ depending on the severity of FA features.

Acknowledgement of Friedreich's Ataxia has not been added yet.

FA occurs in approximately 1 in 40,000 people. It is the most common form of hereditary ataxia in Europe, the Middle East, South Asia, and North Africa. Both male and female children can inherit FA.

Synonyms for Friedreich's Ataxia has not been added yet.

 

FA is caused by a mutation in the FXN gene, which provides instructions for the production of a protein called frataxin. This protein is needed for the functioning of mitochondria, which are the energy-producing parts of cells. As individuals with FA have both copies of the FXN gene affected, they do not produce adequate amounts of frataxin. Consequently, tissues in the body that are especially dependent on cellular energy production, such as nerve and heart cells, start to degenerate. 

In most individuals affected by FA, there is a very specific error in the FXN gene called an expanded GAA trinucleotide repeat. Every gene is made up of different arrangements of four chemical units (nucleotides) called adenine (A), cytosine (C), guanine (G), and thymine (T). In most individuals with FA, both copies of the FXN gene contain abnormally long tracts of repeating units that contain guanine-adenine-adenine (GAA trinucleotide repeat). In contrast to individuals without FA who have less than 30 GAA repeats, individuals with FA typically have expanded tracts that range from 100 to 1300 repeats in both copies of the FXN gene. This expanded GAA repeat mutation causes gene silencing and impairs the production of frataxin protein. The severity of the FXN gene silencing depends on the length of the expanded GAA repeat mutation and this is also correlated with the variability of associated symptoms. An affected individual with shorter expansions, such as less than 400 GAA repeats, may have a later age of onset, slower progression of clinical features, and milder cardiomyopathy (e.g. heart problems). FA is the only known genetic disorder that requires an individual to inherit two copies of the abnormal FXN gene to be affected. Nearly all individuals with FA (98%) have two copies of this trinucleotide repeat abnormal form of FXN, but about 2% of affected individuals have other defects in the gene that cause FA. 

 

Symptoms of FA typically begin in children between the ages of 5 and 15 years, but may also occur later in adulthood. The primary symptom and typically the first neurological symptom to appear is difficulty walking and poor muscle coordination/balance (ataxia). As FA can affect all muscles, those involved in the mouth and throat are often affected leading to slurred speech and impaired swallowing. Speech may also become hesitant and jerky. As the condition gradually worsens, the ataxia will spread affecting the arms and torso. The curving of the spine to one side called scoliosis occurs in up to two-thirds of affected individuals and often requires treatment. FA often affects the heart muscle in various forms ranging from mild abnormalities to life-threatening problems, including enlargement of the heart (hypertrophic cardiomyopathy) and a fast heart rate (tachycardia). Diabetes is also common affecting around 30% of individuals with FA. 

Name Description
Ataxia Loss of the ability to coordinate muscle movement
Rapid heart rate Rapid heart rate
Impaired balance, coordination and speech Impaired balance, coordination and speech

FA is typically suspected in an individual following a clinical examination and a diagnosis is then confirmed with molecular genetic testing to identify mutations in the FXN gene. A thorough physical examination will assess areas including any balance difficulties, loss of joint sensation, and signs of neurological problems.

 

Tests to confirm FA diagnosis include:

  • Electromyogram (EMG) that measures the electrical activity of muscle cells

  • Electrocardiogram (EKG or ECG) that provides a graphic presentation of the electrical activity of beat pattern of the heart

  • Echocardiogram that records the position and motion of the heart

  • Nerve conduction studies to see how quickly the nerves transmit impulses

  • Blood tests, particularly to check for elevated glucose levels to screen for diabetes

  • Magnetic resonance imaging (MRI) or computed tomography (CT) scans to provide brain and spinal cord images that can help to determine any neurological conditions or problems

 

There is currently no cure or effective treatment for FA. However, many of the associated symptoms and complications can be treated or managed effectively. A multidisciplinary treatment strategy tends to be the most appropriate approach as FA affects multiple areas of the body. Prostheses, walking aids, wheelchairs and physical therapy can enable mobility and orthopedic surgery or non-surgical interventions may be used to treat scoliosis along with any abnormalities in the feet. Heart problems and diabetes may be treated with medication and dietary modifications may also be advised. Speech therapy can help to improve verbal communication. Continuous medical supervision is recommended to oversee management and treatment of potential complications that may involve the heart, spine, muscles, vision and hearing. 

The rate of FA progression varies across individuals. Many are confined to a wheelchair within 10 to 20 years after the first symptoms of FA appear. The condition can shorten life expectancy, and the most common cause of death is heart disease. However, many affected individuals can lead active lives, go on to have families and in some cases, live much longer into their sixties and older.

Useful information and resources can be found here: https://curefa.org/ 

National Institute of Neurological Disorders and Strokes. Freidreich Ataxia Fact Sheet. 2018. Available from: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet

National Organization for Rare Disorders. Friedreich’s Ataxia. 2018. Available from: https://rarediseases.org/rare-diseases/friedreichs-ataxia/

Muscular Dystrophy Association. Friedreich’s Ataxia (FA). n.d. Available from: https://www.mda.org/disease/friedreichs-ataxia 

 

Community Details Update Created by RareshareTeam
Last updated 20 Jan 2021, 12:08 AM

Posted by RareshareTeam
20 Jan 2021, 12:08 AM

Hi everyone,

The Friedreich's Ataxia community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful. 

Your RareShare Team!

 

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I am a mother of a young man recently diagnosed with FA. I had never heard of that disease before and need do know how patients and family cope with the situation, psychologically and medically....
A sister of two men with FA.
Diagnosed with FA at the age of 18

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