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Genetic Phenomena Commons

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Pediatrics

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

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Full-Text Articles in Genetic Phenomena

Aging With The Fmr1 Gene: A Life Course Perspective, Cornelia Lieb-Lundell Jul 2017

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, …