Friedrich Ataxia Research Alliance (FARA ) research pipe line -

November 26,2018

    Friedrich Ataxia Research Alliance

    Friedrich Ataxia Research Alliance (FARA) is established in 1998, supports basic and translational research, pharmaceutical/ biotech drug development,  clinical trials and scientific conferences.  It facilitates dialogue between public and scientific community worldwide and promotes exchanges of information that drive medical advances. 

    It is a non profit organization dedicated to curing Friedrich Ataxia and related sporadic ataxias. 
    It is a rare inherited disease that causes progressive nervous system damage and movement problems.  It usually begins in childhood and leads to impaired muscle co - ordination (ataxia)  that worsens overtime. 
    It manifests in initial symptoms of poor co - ordination such as gait disturbance (abnormally), scoliosis (curving of spine to one side), heart diseases and diabetes. It does not affects reasoning and thinking (cognitive functions). 
    In this nerve fibers in the spinal cord and peripheral nerves degenerates and becomes thinner.  Peripheral nerves carry information from brain to the body and back to the brain. 
    The cerebellum part of the brain that co - ordinates balance and movement also degenerates to lesser extent.  It also causes problems in heart and spine and some people with the condition will also develop diabetes.  People with diabetes are advised to eat a suitable diet,  to control their sugar levels. 

    Symptoms of Friedrich Ataxia

    Symptoms typically begin between the ages of 5 & 15 years,  although they sometimes appears in adulthood.  Approximately 15% of people with Friedrich Ataxia have on set after the age 25.
    •  The early sign of the disease is loss of co - ordination in the arms and   legs. 
    • With the time passes speech becomes hesitant and jerky ( often referred to as scanning of speech). 
    • 2/3 of the people with Friedrich Ataxia (FA)  also develop scoliosis (curving of spine to one side). 
    • It also causes diabetes mellitus { insulin - dependent in most cases). 
    • Many individuals on the later stages of Friedrich Ataxia (FA) also develop hearing and vision loss. 

    Treatment of Friedrich Ataxia

    A diagnosis of Friedrich Ataxia requires a careful examination,  which includes a medical history and a through physical examination in particular looking for balance difficulty,  loss of joint sensation and other neurological problems. Genetic testing provided a conclusive diagnosis. Other tests may aid in the diagnosis of the disorder includes: 

    • Physical therapy helps to maintain motor and muscle control for as long as possible. 
    • Meditation can also help to manage complications such as heart disease,  arrhythmic heart beat and diabetes.
    • Some with Friedrich Ataxia (FA)  develop scoliosis often require a surgery to help straighten and support the spine. 
    • Electromyogram (EMG), which measures the electrical activities of muscle cells. 
    • Blood tests to check for evaluation of glucose levels and vitamin E levels. 

    The clinical spectrum of Friedrich Ataxia (FA) is broader than previously recognized and the direct Molecular test for the GAA expansion on chromosome 9 is useful for diagnosis,  determination of prognosis and genetic counseling. 

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