Fragile X-associated tremor ataxia syndrome (FXTAS) is a hereditary (X-linked dominant) neurodegenerative disorder. The disorder results in intention tremor and ataxia. Tremor typically precedes ataxia by a few years. Other associated symptoms include mild cognitive impairment, dysautonomia, parkinsonism, mood instability, and/or peripheral neuropathy.
Onset of disease is typically after age 50. It affects men more frequently and more severely than women. In women, it may be associated with premature ovarian failure resulting in early menopause, hypothyroidism, or fibromyalgia. Progression is variable, ranging from gradual to rapid. There is no cure, and management is symptomatic.
Related topic: fragile X syndrome
Fragile X-associated tremor ataxia syndrome
Synopsis
Codes
ICD10CM:
G11.2 – Late-onset cerebellar ataxia
SNOMEDCT:
448045004 – Fragile X associated tremor ataxia syndrome
G11.2 – Late-onset cerebellar ataxia
SNOMEDCT:
448045004 – Fragile X associated tremor ataxia syndrome
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Last Reviewed:12/05/2019
Last Updated:09/11/2023
Last Updated:09/11/2023