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Condition

Friedreich Ataxia

Condition 101

What is the definition of Friedreich Ataxia?

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

What are the alternative names for Friedreich Ataxia?

Friedreich's ataxia; Spinocerebellar degeneration

What are the causes for 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 for 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.

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.

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 for 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.

REFERENCES

Mink JW. Movement disorders. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 597.

Warner WC, Sawyer JR. Scoliosis and kyphosis. In: Azar FM, Beaty JH, Canale ST, eds. Campbell's Operative Orthopaedics. 13th ed. Philadelphia, PA: Elsevier; 2017:chap 44.

Latest Research

Latest Advance
Study
  • Condition: Friedreich Ataxia
  • Journal: Annals of clinical and translational neurology
  • Treatment Used: Interferon Gamma (IFN-? 1b)
  • Number of Patients: 92
  • Published —
In this study, researchers evaluated the safety and effectiveness of interferon gamma (IFN-? 1b) for the treatment of Friedreich ataxia.
Latest Advance
Study
  • Condition: Inherited Ataxia Spasticity and Painful Spasms
  • Journal: Stereotactic and functional neurosurgery
  • Treatment Used: Intrathecal Baclofen
  • Number of Patients: 5
  • Published —
This study tested the safety and efficacy of using intrathecal baclofen to treat patients with inherited ataxia spasticity and painful spasms.
Latest Advance
Study
  • Condition: Friedreich ataxia
  • Journal: Annals of clinical and translational neurology
  • Treatment Used: omaveloxolone
  • Number of Patients: 69
  • Published —
The purpose of the study was to assess the safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia patients.
Latest Advance
Study
  • Condition: Friedreich's Ataxia
  • Journal: Clinical rehabilitation
  • Treatment Used: Six-Week Rehabilitation
  • Number of Patients: 19
  • Published —
This study determined the effectiveness of a six-week rehabilitation program followed by a home exercise program for Friedreich's ataxia (a genetic, progressive, neurodegenerative movement disorder).

Clinical Trials

Clinical Trial
Dietary Supplement
  • Status: Recruiting
  • Study Type: Dietary Supplement
  • Participants: 72
  • Start Date: March 2, 2020
NAD+ Precursor Supplementation With Exercise Training to Increase Aerobic Capacity in Friedreich's Ataxia
Clinical Trial
Other
  • Status: Active, not recruiting
  • Study Type: Other
  • Participants: 120
  • Start Date: March 1, 2020
Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia : INTREP-AF