Document Type

Article

Publication Date

7-2-2017

Medical Subject Headings

Fragile X Tremor Ataxia Syndrome, Fragile X Syndrome. Primary Ovarian Insufficiency, Intellectual Disability, Muscle Tonus

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

  1. Cornish K, Li L, Kogan C, et al. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex. 2008;44:628-636. Available at: https://www.researchgate.net/profile/Ann_Dalton2/publication/5379618_Age-dependent_cognitive_changes_in_carriers_of_the_Fragile_X_Syndrome/links/02e7e5366ab27d18da000000.pdf. Accessed on March 11, 2017.
  2. Lieb-Lundell C. Three faces of fragile X. Phys Ther. 2016;96(11):1782-1790.
  3. Lozano R, Saifo, N, Reed D. Aging in fragile X premutation carriers. Cerebellum. 2016;15:587-594. Available at: https://www.researchgate.net/publication/304342221. Accessed on: March 9, 2017.
  4. Schneider A, Ligsay A, Hagerman R. Fragile X syndrome: an aging perspective. Dev Disabil Res Rev. 2013; 18(1): 68-74. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959461/. Accessed on March 9, 2017.
  5. Tassone F and Berry-Kravis (eds). The Fragile X –Associated Tremor Ataxia Syndrome (FXTAS). Springer, Heidelberg. 2010.
  6. Utari A, Adams E, Berry-Kravis E. Aging in fragile X syndrome. J Neurodev Disord. 2010;2:70-76. Available at: https://jneurodevdisorders.biomedcentral.com/articles/10.1007/s11689-010-9047-2. Accessed on: March 9, 2017.


Share

COinS