Friedreich’s Ataxia (FA) is a rare autosomal recessive neurodegenerative disease that causes progressive nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Frataxin is a mitochondrial protein. Due to epigenetic alterations, frataxin expression is reduced significantly, and its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species.
In Friedreich ataxia nerve fibers in the spinal cord and peripheral nerves degenerate, becoming thinner. Peripheral nerves carry information for muscles to generate movement and the cerebellum, that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder does not affect thinking and reasoning abilities (cognitive functions).
Generally, within 10–20 years after the appearance of the first symptoms, the person uses a wheelchair. Individuals may become wholly incapacitated in the later stages of the disease. It can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of FA live into their sixties or older.
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A study titled “Friedreich ataxia: an overview,” conducted by Delatycki et al. stated that before the availability of molecular diagnosis, FA was estimated to affect about 1/50,000 people with an estimated carrier prevalence of about 1/110. However, recent studies based on molecular data suggest a higher prevalence. Based on examining the FA gene in 178 healthy subjects in Germany, a carrier rate of 1/60–1/90 was estimated. Another study estimated the carrier rate to be 1/85 with a disease prevalence of 1/29 000. It is the commonest inherited ataxia.
Treatments for FA have targeted specific symptoms of the disease rather than the underlying cause, and to a greater degree, these therapeutic options still make up the gold standard FA care. There is no cure for the disease, but there are ways to manage the condition and improve the quality of life for those living with FA. Fortunately, the most life-threatening symptomin patients with FA, i.e. Heart disease, can be controlled with treatments developed for use in the general population.
Certain drugs, such as ACE inhibitors, diuretics and beta-blockers, decrease the workload of the heart, and pacemakers or medications can stabilize an arrhythmic heartbeat. Likewise, diabetes can be managed with insulin in FA patients. Surgical procedures are sometimes performed to correct foot deformities and scoliosis, and though they’re not trivial, they usually are effective.
While there exists no treatment regimen in order to stop the progression of ataxia or muscle weakness in FA, rehabilitation therapy is generally considered making it easier to manage these problems. Furthermore, physical therapy can help stretch tight muscles and enhance flexibility, and speech therapy can help re-train tongue and facial muscles to improve speech and swallowing.
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