Background Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of ...
Fragile X syndrome (MIM 309550) is the most common inherited form of mental retardation. The disorder is caused by an expansion >200 repeats (full mutation) of a trinucleotide element, (CGG)n, located in the 5′ UTR of the fragile X mental retardation 1 (FMR1) gene (Verkerk et al. 19...
Kesler et al (2009) stated that males with fragile X syndrome (FRAX) are at risk for significant cognitive and behavioral deficits, particularly those involving executive prefrontal systems. Disruption of the cholinergic system secondary to fragile X mental retardation protein deficiency may contribute t...
Fragile X syndrome, for persons who meet medical necessity criteria for Fragile X genetic testing (see CPB 0140 - Genetic Testing), FMR1 gene analysis by PCR is considered medically necessary to confirm diagnosis of fragile X syndrome and to rule out FRAXE and FRAXF. Francisella tularensis, for...
Spinogenix's SPG601 Receives FDA Fast Track Designation for Fragile X Syndrome Isabella Ciccone, MPH January 17th 2025 Article The company announced the completion of its phase 2 study assessing SPG601 in adult men with FXS, with topline findings expected to be reported by end of the first qu...
and in I889 Kahler first connected the two conditions and described the syndrome of multiple myeloma (still occasionally referred to as Kahler's disease), as consisting of the tetrad, deformation and abnormal fragility of bones with bone pain, cachexia and the presence of Bence Jones proteinuria....
Tissue specific expression of FMR|[ndash]|1 provides evidence for a functional role in fragile X syndrome involvement in the fragile X phenotype, and also suggests additional organ systems in which clinical manifestations of reduced FMR-1 gene expression may ... HL Hinds,CT Ashley,JS Sutcliffe,...
Clinical manifestations of UGH syndrome include elevated IOP, anterior chamber inflammation, and recurrent hyphema or micro-hyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber lOLs, cases of mal-positioning ...
Until recently, the diagnosis of the ATR-X syndrome had been guided by the classical clinical manifestations and confirmed by molecular techniques. However, our new systematic analysisshows that the only clinical sign shared by all affected individuals is intellectual disability, with the other ...
The first is based on the concept that, although each individual condition may be minor in and of itself, the frailty syndrome is created by the total number of individual dysfunctions and their interactions. Fried et al. [1] defined frailty as weight loss, fatigue (or exhaustion), slow ...