Fibromyalgia in fragile X mental retardation 1 gene premutation carriers

Methods. A sample of patients was selected that participated in studies at two tertiary referral academic centres on the phenotype and therapy of FXTAS. Results. This selected sample of patients, five female premutation carriers, has FM symptoms or diagnoses and other central sensitivity syndromes. Conclusion. Since FM affects 2-4% of the world's population and about 1 in 250 females are FMR1 carriers, a study screening females with FM for the presence of the FMR1 premutation is worthwhile. A finding of increased prevalence of FMR1 carriers among females with FM would impact the standard evaluation of FM. Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome. The latter is a common cause of autism and developmental delay. Such testing is important because female carriers are at risk of having a child with fragile X syndrome.