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Key Features

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  • Most common of the autosomal recessive ataxias

  • Incidence is about 1 in 30,000–50,000 and a carrier rate is 1 in 85

  • Does not exhibit other neurologic symptoms, such as seizures, but does tend to involve systems outside of the nervous system

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Clinical Findings

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  • Symptoms present between the ages of 5–25 years

    • Progressive gait and limb ataxia

    • Dysarthria

    • Loss of proprioception and vibration

    • Areflexia

    • Abnormal eye movements

    • Pyramidal weakness of the feet with upgoing toes

    • In addition, systemic symptoms develop; patients may have associated pes cavus, cardiomyopathy, diabetes, and scoliosis

  • Spinocerebellar ataxia, poor balance with falls, difficulty with hand coordination, dysarthria, vertigo, and diplopia may be seen

  • Peripheral neuropathy, with loss of proprioception and vibratory sense, may also be seen

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Diagnosis

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  • Genetic testing confirms diagnosis

    • 98% of patients have a triplet GAA expansion in the frataxin gene on chromosome 9q13

    • In general, a greater number of repeats predicts an earlier onset of disease, more severe systemic manifestations, and more severe ataxia

  • Neuroimaging does not show progressive cerebellar degeneration

  • Mild atrophy of the cervical spinal cord may be seen

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Treatment

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  • Yearly screening needs to be performed with a radiograph to monitor scoliosis; serum glucose and hemoglobin A1C to monitor for the onset of diabetes, and echocardiogram to monitor cardiomyopathy

  • Trials have demonstrated that coenzyme Q10 and vitamin E can result in improvement in cardiac symptoms, and low-dose idebenone can reduce cardiac hypertrophy

  • However, none of these have resulted in improvement in neurologic symptoms, and therefore treatment of the progressive neurologic symptoms remains symptomatic

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