Document Type

Conference Proceeding

Publication Date

7-2-2017

Medical Subject Headings

Fragile X Syndrome, Fragile X Tremor Ataxia Syndrome, Primary Ovarian Insufficiency, Trinucleotide Repeat Expansion, Pediatrics, Physical Therapy Modalities

Abstract

Fragile X Syndrome (FXS) is well known and widely recognized in pediatrics. Less well known is that FXS, as an X-linked disorder of the FMR1 gene, is but one of three impairments that all have a common single-gene genetic basis. These three are labeled Fragile X-associated Disorders (FXD) and are, in turn, a part of a large group of impairments which have a collective name of trinucleotide repeat expansion disorders. Common to all three FXD disorders is that the x-gene carries a characteristic CGG expansion (of the DNA) that can range from 50-+200 (5-45 is normal) with premutation carriers having 50-100 expansions and persons with FRX having 200 or more expansions.

This presentation is to define the body structure, function and potential activity limitations that are characteristic of each of the three specific Fragile X-associated Disorders with special emphasis on Fragile X Primary Ovarian Insufficiency (FXPOI) and Fragile X Tremor Ataxia Syndrome (FXTAS) and to discuss the role of physical therapy in both intervention and research.

Comments

Poster presented at the World Confederation of Physical Therapy Annual Congress, May 1-4, 2017, in Singapore.

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