Friedreich’s ataxia (FA) refers to a form of neuromuscular disease in which ataxia is the primary symptom. Bone irregularities, bladder control problems, and sensory problems can also occur. This disease was first described in 1863 by Nikolaus Friedreich.
The term ataxia refers to an inability to coordinate voluntary muscular movements involving the head, trunk, and/or limbs, affecting movement and balance. Ataxia may also affect speech and/or eye movement.
Damage to the cerebellum, spine, and peripheral nervous system cause the symptoms of Friedreich’s ataxia. The first symptoms to present include incoordination of walking, balance issues, and slurred speech. These symptoms worsen as the disease progresses. Fine motor coordination of the hands and arms will also be affected over time, impairing abilities such as writing and feeding oneself.
Over time bone irregularities in the spine (kyphoscoliosis) and feet (pes cavus/high arches) develop. In the later stage of the disease, about half of those with FA develop problems with bladder control. About ten percent of those with FA will develop problems with hearing and/or vision (affecting visual acuity or color vision). Friedreich’s ataxia may also lead to the development of serious cardiac difficulties (cardiomyopathy), affecting life-span. Diabetes often co-occurs with FA.
FA is caused by a disorder of a gene called the Frataxin gene. Friedreich’s ataxia is inherited as an recessive trait: An affected individual inherits a copy of the defective gene from both parents. About one in one hundred people carry the altered Frataxin genes and thus are (often unknowingly) carriers of this trait. About one in 20,000 to 50,000 people are affected by Friedreich’s ataxia. Onset of FA usually (but not always) occurs between the age of 5 and 25.
Diagnosis of Friedreich’s ataxia will be based upon personal and family medical history and neurological evaluation. An MRI of the brain will be performed, and blood tests will be performed to rule out other possible disorders. Genetic testing is available for Friedreich’s ataxia.
Until recently, treatment focused on the various symptoms of FA. Surgical procedures may be used to correct foot or spinal irregularities. Physical therapy may also be helpful. Research into the causes and treatment of Friedreich’s ataxia has been active. Recently, researchers have targeted genetic therapy, CoQ10, vitamin E, idebenone and frataxin as possible medical treatments for FA.
Friedreich’s Ataxia Research Alliance website, (2013). http://www.curefa.org/ . Retrieved 4/20/13.
MedlinePlus, (2012). Friedreich’s Ataxia. http://www.nlm.nih.gov/medlineplus/friedreichsataxia.html . Retrieved 4/20/13.
Muscular Dystrophy Association, (2009). Facts about Friedreich’s Ataxia. http://www.mda.org/publications/facts-about-friedreichs-ataxia-fa . Retrieved 4/20/13.
National Ataxia Foundation, (n.d.). Diagnosis of Ataxia. http://www.ataxia.org/learn/ataxia-diagnosis.aspx#what-is-ataxia . Retrieved 4/20/13.
National Ataxia Foundation, (2011). Friedreich’s Ataxia. Fact sheet downloaded from http://www.ataxia.org/resources/publications.aspx . Retrieved 4/20/13.
NIH, (2012). Ataxia. http://ghr.nlm.nih.gov/glossary=ataxia. Retrieved4/20/13.