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Friedreich ataxia 1

Summary

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes. [from GeneReviews]

Available tests

64 tests are in the database for this condition.

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Clinical tests (64 available)

Molecular Genetics Tests

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  • Also known as: CyaY, FA, FARR, FRDA, X25, FXN
    Summary: frataxin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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