Friedreich Ataxia Overview
Learn About Friedreich Ataxia
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:
- 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.
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.
Regents Of The University Of Michigan
John Fink is a Neurologist in Ann Arbor, Michigan. Dr. Fink and is rated as an Advanced provider by MediFind in the treatment of Friedreich Ataxia. His top areas of expertise are Primary Lateral Sclerosis, CACH Syndrome, Spastic Paraplegia Type 2, and Spastic Paraplegia Type 7.
Regents Of The University Of Michigan
Peter Todd is a Neurologist in Ann Arbor, Michigan. Dr. Todd and is rated as an Advanced provider by MediFind in the treatment of Friedreich Ataxia. His top areas of expertise are Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Episodic Ataxia with Nystagmus. Dr. Todd is currently accepting new patients.
Nadir Abdelrahman is a Geriatrics specialist and an Internal Medicine provider in Dimondale, Michigan. Dr. Abdelrahman and is rated as an Advanced provider by MediFind in the treatment of Friedreich Ataxia. His top areas of expertise are Alzheimer's Disease, End-Stage Renal Disease (ESRD), Harding Ataxia, and Spinocerebellar Degeneration and Corneal Dystrophy. Dr. Abdelrahman 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:
- Diabetes
- Heart failure or heart disease
- Loss of ability to move around
Contact 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 goal of this clinical trial is to evaluate the safety and tolerability of nomlabofusp (CTI-1601) in adolescents and children with Friedreich's ataxia (FRDA).
Summary: In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich's Ataxia, also known as FA. This is known as an observational study, which collects health information about study participants without changing their medical care. Participants for this study will be found u...
Published Date: October 31, 2022
Published 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.
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.