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Friedreich's ataxia

Friedreich’s ataxia (FA) – FA is a debilitating multi-system disease and the most common cause of inherited ataxia, 1 in 100 people are carriers of the FA Gene. What begins as difficulty with balance and coordination, progresses over a short period of time to a life altering loss of mobility, energy, speech and hearing, robbing children and young adults of the ability to live active lives. FA also presents serious risk of diabetes and life shortening cardiac disease. As of today, there is no treatment or cure.

FA is an autosomal recessive inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes.

The ataxia of Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insulating covering on some nerve cells that helps conduct nerve impulses). Mentation is spared in this condition.

The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.

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