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  Oct 18, 2018

Friedreich's Ataxia Genetics

Friedreich’s ataxia is a genetic disorder that gradually causes increasing damage to the nervous system. Symptoms vary depending on the stage and severity of the disease but range from difficulty with speech and coordination through to curvature of the spine and cardiac problems.

The condition was named after Nicholaus Friedreich who first described the condition in 1863. Although Friedreich established that there was a familial element to the condition, he was unable to identify the exact mode of inheritance. Since then, researchers have learned that Friedreich’s ataxia is inherited in an autosomal recessive manner.

Autosomal recessive inheritance

Autosomal recessive inheritance means that two defective genes, one from either parent, need to be inherited by offspring if they are to develop the disease. Every individual carries two copies of all their genes, with one copy inherited from each parent. If both the mother and father are carriers of this disease, each then possess one defective gene and one normal gene. The likelihood of each parent passing on the defected gene to their child is therefore one in two, meaning their child has a 50% chance of inheriting one defected gene and