Learn About Friedreich Ataxia

What is the definition of Friedreich Ataxia?

Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart.

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What are the alternative names for Friedreich Ataxia?

Friedreich's ataxia; Spinocerebellar degeneration

What are the causes of Friedreich Ataxia?

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.

What are the symptoms of Friedreich Ataxia?

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
  • Hearing loss, this occurs in about 10% of people
  • Jerky eye movements
  • Loss of coordination and balance, which leads to frequent falls
  • Muscle weakness
  • No reflexes in the legs
  • Unsteady gait and uncoordinated movements (ataxia), which gets worse with time

Muscle problems lead to changes in the spine. This may result in scoliosis or kyphoscoliosis.

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.

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What are the current treatments for Friedreich Ataxia?

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.

Who are the top Friedreich Ataxia Local Doctors?
Elite
Highly rated in
19
conditions

Murdoch Children's Research Institute

Parkville, VIC, AU 

Martin Delatycki is in Parkville, Australia. Delatycki is rated as an Elite expert by MediFind in the treatment of Friedreich Ataxia. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Friedreich Ataxia, Spinocerebellar Ataxia, Drug Induced Dyskinesia, and Acute Cerebellar Ataxia.

Elite
Highly rated in
8
conditions

Murdoch Children's Research Institute

Melbourne, VIC, AU 

Louise Corben is in Melbourne, Australia. Corben is rated as an Elite expert by MediFind in the treatment of Friedreich Ataxia. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Friedreich Ataxia, Spinocerebellar Ataxia, Drug Induced Dyskinesia, and Dysarthria.

 
 
 
 
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Elite
Highly rated in
49
conditions
Neurology

Westwood - Neurological Services

Los Angeles, CA 

Susan Perlman is a Neurologist in Los Angeles, California. Dr. Perlman has been practicing medicine for over 47 years and is rated as an Elite doctor by MediFind in the treatment of Friedreich Ataxia. She is also highly rated in 49 other conditions, according to our data. Her top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia, Friedreich Ataxia, and Drug Induced Dyskinesia. She is board certified in Neurology and licensed to treat patients in California. Dr. Perlman is currently accepting new patients.

What is the outlook (prognosis) for Friedreich Ataxia?

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.

What are the possible complications of Friedreich Ataxia?

Complications may include:

  • Diabetes
  • Heart failure or heart disease
  • Loss of ability to move around
When should I contact a medical professional for Friedreich Ataxia?

Call your health care provider if symptoms of Friedreich ataxia occur, especially if there is a family history of the disorder.

How do I prevent Friedreich Ataxia?

People with a family history of Friedreich ataxia who intend to have children may want to consider genetic screening to determine their risk.

Central nervous system and peripheral nervous system
What are the latest Friedreich Ataxia Clinical Trials?
NAD+ Precursor Supplementation With Exercise Training to Increase Aerobic Capacity in Friedreich's Ataxia
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Home Based Tele-exercise for People With Chronic Neurological Impairments
What are the Latest Advances for Friedreich Ataxia?
Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study.
Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity.
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Quantitative Assessment of Friedreich Ataxia through the self-drinking activity.
What are our references for Friedreich Ataxia?

Mink 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.