Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart.
Friedreich's ataxia; Spinocerebellar degeneration
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.
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:
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.
Treatment for Friedreich ataxia includes:
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.
Martin Delatycki practices in Parkville, Australia. Delatycki is rated as an Elite expert by MediFind in the treatment of Friedreich Ataxia. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Friedreich Ataxia, Spinocerebellar Ataxia, Drug Induced Dyskinesia, Hereditary Ataxia, and Bone Marrow Transplant.
Massimo Pandolfo practices in Brussels, Belgium. Pandolfo is rated as an Elite expert by MediFind in the treatment of Friedreich Ataxia. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Friedreich Ataxia, Spinocerebellar Ataxia, Drug Induced Dyskinesia, and Hereditary Ataxia.
Theresa Zesiewicz is a Neurologist in Tampa, Florida. Zesiewicz has been practicing medicine for over 35 years and is rated as an Elite expert by MediFind in the treatment of Friedreich Ataxia. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Friedreich Ataxia, Spinocerebellar Ataxia, Drug Induced Dyskinesia, Essential Tremor, and Deep Brain Stimulation. She is licensed to treat patients in Florida. Zesiewicz is currently accepting new patients.
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.
Complications may include:
Call your health care provider if symptoms of Friedreich ataxia occur, especially if there is a family history of the disorder.
People with a family history of Friedreich ataxia who intend to have children may want to consider genetic screening to determine their risk.
Summary: The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
Summary: The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
Published Date: October 02, 2020
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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.