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GTR Home > Conditions/Phenotypes > Friedreich ataxia 1

Friedreich ataxia 1

Summary

Excerpted from the GeneReview: Hereditary Ataxia Overview
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.
Full text of GeneReview (by section):
Summary
Definition
Causes
Evaluation Strategy
Genetic Counseling
Resources
Management
References
Chapter Notes
Authors:
Thomas D Bird
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Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • 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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