by What is Friedreich’s Ataxia?
FDRA (FA) is an inherited neurodegenerative disorder that causes progressive loss of coordination and balance. It affects the nerve cells in the brain and spinal cord. The most common early symptoms are problems with walking and balance that slowly worsen over time. FA is typically diagnosed in childhood or early adulthood.
Friedreich’s Ataxia is an autosomal recessive genetic disease caused by a GAA trinucleotide repeat expansion mutation in the frataxin gene (FXN) located on chromosome 9. This mutation causes reduced levels of the protein frataxin in the body. Frataxin plays a role in cellular iron transport and regulation of oxidative phosphorylation in the mitochondria. Reduction of frataxin levels leads to oxidative stress and mitochondrial dysfunction which causes degeneration of nerves in the spinal cord and peripheral nerves. A person requires two copies of the FXN gene mutation, one from each parent, to develop FA. About 1 in every 50,000 people carries one copy of the mutation but does not develop the disease.
Early Symptoms of Friedreich’s Ataxia
The initial and most common early symptom is poor coordination of legs (ataxia) which leads to a wide-based or unsteady clumsy gait. Affected individuals also experience difficulty with balance, performing manual tasks such as writing or buttoning clothes, and problems with speech such as slurring. Muscle weakness in the legs is another early sign. Loss of sensation in the feet and lower legs is also common. Scoliosis or curvature of the spine develops in about two-thirds of people with FA over time.
Other Signs and Symptoms
As FA progresses, individuals develop ataxia in the arms and hands as well as the legs. Muscle weakness worsens and affects the arms, shoulders, and trunk. Individuals have difficulty with walking and may eventually become wheelchair-bound late in the disease course. Progressive loss of sensation can extend up the legs and trunk. Heart problems including an irregular heartbeat are common. About half of individuals develop symptoms of diabetes. Vision problems are occasionally seen. Cognitive function is generally spared but mild learning disabilities may be seen. Life expectancy is usually between 30-40 years.
Diagnosis of FDRA
There is no single test to diagnose FA definitively. The diagnosis is made based on a combination of factors including: a thorough neurological exam showing features of ataxia and loss of coordination/balance; family history of FA in close relatives; genetic testing showing mutations in both copies of the frataxin gene; and imaging tests like MRI showing abnormalities in the spinal cord. Other conditions like vitamin deficiencies or rare genetic disorders are ruled out in the differential diagnosis. Genetic testing has high accuracy to confirm the diagnosis by detecting the trinucleotide repeat mutations.
Treating the Symptoms of FDRA
There is currently no cure for FA but treatment focuses on managing symptoms to improve quality of life. Physical and occupational therapy can help preserve mobility and function for as long as possible. Ankle-foot orthoses may assist with balance. Medications like cardiac drugs are used to manage heart problems. Diabetes is treated if present. Surgery may be considered to correct scoliosis. Support groups can help individuals cope with progressive disability. Vitamin E supplementation is occasionally tried based on its antioxidant properties but evidence for benefit is limited. Gene therapy and other experimental treatments are being investigated but remain at early research stages currently.
Prognosis and Lifelong Considerations
While FA is progressive, the rate of progression varies greatly between individuals. Average life expectancy is 30-40 years but some live into their 50s or 60s. Disability increases over time and most individuals will eventually require use of a wheelchair. Progressive loss of sensation increases risk of injury. Monitoring for heart problems is important as cardiac disease is a common cause of death. Other conditions like diabetes and nutritional issues warrant close management. Living arrangements may need to adapt with increasing disability. Genetic counseling can help families understand inheritance risks and available reproductive options. Support networks are important to help manage challenges over the lifelong course.
In summary, FA is an inherited neurodegenerative disorder caused by a mutation in the frataxin gene. It causes progressive coordination problems, muscle weakness, cardiac issues and other complications. While currently incurable, management focuses on controlling symptoms to maximize quality of life. Supportive care, physical therapy, and monitoring for complications aims to optimize outcomes over the condition’s lifelong progression. Understanding the genetics, symptoms, treatments and lifelong impacts of FA helps individuals and families cope with its challenges.
*Note:
1.Source: Coherent Market Insights, Public sources, Desk research
2.We have leveraged AI tools to mine information and compile it
About Author - Money Singh
Money Singh is a seasoned content writer with over four years of experience in the market research sector. Her expertise spans various industries, including food and beverages, biotechnology, chemicals and materials, defense and aerospace, consumer goods, etc. LinkedIn Profile
