Lieb-Lundell C.1, Burke-Doe A.1
1University of St. Augustine, San Marcos, United States
Background: Fragile X Syndrome (FXS) is well known and widely recognized in pediatrics. FXS is the most common form of inheritable intellectual disability and is currently identified as the most common single gene cause of autism. FXS is found in all parts of the world and among every ethnic group. The frequency of occurrence is 1:4000 in males and 1:6000 in females.
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.
Fragile X syndrome (FXS) is the pediatric version transmitted from mother to son or daughter. Fragile X primary ovarian insufficiency (FXPOI) is the female version inherited from father to daughter and affects up to 20% of women who carry the premuation form. Fragile X tremor/ataxia syndrome (FXTAS) is the geriatric version that affects male premuation carriers and to a lesser degree female carriers.
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.
Fragile X syndrome (FXS) is the pediatric version transmitted from mother to son or daughter. Fragile X primary ovarian insufficiency (FXPOI) is the female version inherited from father to daughter and affects up to 20% of women who carry the premuation form. Fragile X tremor/ataxia syndrome (FXTAS) is the geriatric version that affects male premuation carriers and to a lesser degree female carriers.
Purpose: The purpose of this special interest 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 FXPOI and FXTAS and to discuss the role of physical therapy in both intervention and research.
Methods: The presenter has summarized and will discuss relevant clinical characteristics of FXD which, as carriers of the gene, has an estimated frequency of 1:130 females and 1:300 males.
Results: The functional implications of carrying the FMRI gene are significant. The child who has inherited the gene will have physical and behavioral impairments consistent with a diagnosis of FRX. For the adolescent female, anxiety, depression and possible ADHD are not atypical. As an adult, general muscle pain, fibromyalgia, cardiovascular issues and hypothyroidism are common as is primary ovarian insufficiency resulting in intermittent infertility and early menopause with related osteoporosis issues. For the male carrier and a smaller group of female carriers, early onset of decreasing executive function and ataxia can lead to significant activity limitations and decreased participation. A shortened lifespan is not uncharacteristic for this group after the onset of symptoms.
Conclusion(s): Currently, there exists limited information regarding physical therapy issues related to the physical and functional limitations of these impairments. Furthermore, there is little information regarding the design of potential therapy intervention approaches.
Implications: As part of the total picture of FDX, this single gene disorder presents as an intergenerational problem that simultaneously could be present in three generations in one family. The physical therapist may be treating any one of several family members with a range of impairments.
Funding acknowledgements: non to disclose
Topic: Neurology
Ethics approval: Ethics approval is not required
All authors, affiliations and abstracts have been published as submitted.
