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Friedreich's ataxia

Alternative names:

spinocerebellar degeneration

Definition:

An inherited form of progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves.

Causes, incidence, and risk factors:

Friedreich's ataxia is an autosomal recessive inherited polyneuropathy (damage to multiple nerves). The symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination and muscle movement and some sensory functions.

Symptoms generally begin in childhood and before puberty. Early symptoms include an unsteady gait (ataxia), changes in speech (dysarthria) and jerky eye movements (nystagmus). Abnormal muscle control and tone lead to spinal changes and scoliosis or kyphoscoliosis may develop. Individuals with Friedreich's ataxia may also have hammer toe and high arches (pes cavus).

Heart disease may develop and progress into heart failure. Death may result from heart failure or dysrhythmias that will not respond to treatment.


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