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- Fragile X Syndrome (1)
- Fragile X Syndrome, Fragile X Tremor Ataxia Syndrome, Primary Ovarian Insufficiency, Trinucleotide Repeat Expansion, Pediatrics, Physical Therapy Modalities (1)
- Fragile X Tremor Ataxia Syndrome (1)
- Fragile X Tremor Ataxia Syndrome, Fragile X Syndrome. Primary Ovarian Insufficiency, Intellectual Disability, Muscle Tonus (1)
- Pediatrics (1)
Articles 1 - 2 of 2
Full-Text Articles in Rehabilitation and Therapy
Aging With The Fmr1 Gene: A Life Course Perspective, Cornelia Lieb-Lundell
Aging With The Fmr1 Gene: A Life Course Perspective, Cornelia Lieb-Lundell
Physical Therapy Collection
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, …
Three Faces Of Fragile X Syndrome, Cornelia Lieb-Lundell
Three Faces Of Fragile X Syndrome, Cornelia Lieb-Lundell
Physical Therapy Collection
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 …