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Most common inherited ataxia [MISCELLANEOUS] Onset before adolescence [MISCELLANEOUS] Repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) [MISCELLANEOUS] Estimated carrier frequency 1/100 [MISCELLANEOUS] Most common genetic abnormality is a (GAA)n trinucleotide repeat expansion in intron 1 of the FXN gene (606829.0001) [MISCELLANEOUS] Major cause of death is heart failure [MISCELLANEOUS] Average age at death is 37 years [MISCELLANEOUS] Patients often nonambulatory by the mid-twenties [MISCELLANEOUS] Caused by mutation or trinucleotide repeat expansion (GAA)n in the frataxin gene (FXN, 606829.0001) [MOLECULAR BASIS]
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