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Friedreichs ataxia

Introduction to Friedreichs ataxia

Friedreich's ataxia is a genetic condition which results in damage to the nervous system. Progressive damage to the nerves particularly the sensory neurons in the spinal cord occurs, which causes weakness and gait disturbances. The cause of the damage is due to a genetic mutation which leads to altered function of essential proteins which are responsible for maintaining healthy nervous tissue. The protective coating of the nerve and the spinal cord itself becomes thinner which affects the transmission of messages along the nerve.

Onset of symptoms usually occurs between the ages of 5 and 15 years old, however onset can also occur later in life. Diagnosis is usually made by a neurologist based on the findings of a neurological examination and detailed history of symptoms. Additional tests such as MRI or CT scans and other tests may be used to confirm the diagnosis.

Physiotherapy is beneficial for many people with Friedreich's ataxia in order to maximise their physical function and independence for as long as possible.

Friedreichs ataxia

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