fragile X-associated tremor/ataxia syndrome

info · Genetic

A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.

Signs and symptoms

Intention tremor
Mental deterioration
Parkinsonism
Impotence
Resting tremor
Action tremor
Premature ovarian insufficiency
Bradykinesia
Hearing impairment
Dysmetria

Also known as: FXTAS syndrome