Case report: Dystonia in a fragile X carrier

The Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that can affect both male and female carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. It is presumed to be caused by elevated FMR1-mRNA leading to toxicity. Clinical features of FXTAS include progressive cerebellar ataxia and intention tremor [1]. Associated symptoms are peripheral neuropathy, cognitive impairment and dementia [2]. MRI findings of brain atrophy and white matter disease are present in almost all cases but involvement of the middle cerebellar peduncles occurs in 59% of males and 13% of females affected by FXTAS [3]. Oromandibular dystonia (OMD), on the other hand, is a variant of focal dystonia that affects women more often then men with the age of onset between 31-58 years [4]. In this report, we present a patient with the premutation, symptoms of early FXTAS and severe OMD.