Document Type

Article

Publication Date

7-2-2017

Abstract

Fragile X syndrome (FXS) is one of three syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other two conditions are Fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS) which together are referred to as Fragile X-associated disorders (FXD). Even though the three conditions share a common genetic defect each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains; and, for FXTAS, a late onset neurodegeneration.

Definition of the aging progression for FMR1 gene

Comments

Poster presented at the Annual Congress of the World Federation for Physical Therapy, July 2-4, 2017 in Capetown, South Africa.

Also presented at the Annual Conference of the California Physical Therapy Association, September 16-17, 2017, in San Diego, CA.

References

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