If collagen is weaker than it should be, tissues in the body will be fragile, which can make ligaments and joints loose and stretchy. As a result, the joints can extend further than usual. JHS is widely thought to be a feature of an underlying condition affecting connective tissue called Ehlers-Danlos syndrome (EDS).

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Fragile x syndrome nhs

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Listen as Marcia talks through their advice and her own advice, built on decades of working with patients with Fragile X syndrome. Fragile X Syndrome is a genetic mental impairment caused by an inherited problem with the FMR 1 gene, which makes protein necessary for proper brain development.

2016-06-27 · The fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by late-onset, progressive cerebellar ataxia and intention tremor in males who have a premutation. Other neurologic findings include short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction.

Approximately 2% of people who meet the criteria for a diagnosis of autism spectrum disorder have been found to have Fragile X syndrome. Fragile X Syndrome Awareness. 1,466 likes · 1 talking about this.

If collagen is weaker than it should be, tissues in the body will be fragile, which can make ligaments and joints loose and stretchy. As a result, the joints can extend further than usual. JHS is widely thought to be a feature of an underlying condition affecting connective tissue called Ehlers-Danlos syndrome (EDS).

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The gene involved (FMR1) is located on the long arm of the X-chromosome (at Xq27.3) and encodes an RNA-binding protein. Fragile X syndrome is caused, in Fragile X syndrome (MIM 309550) is an X -linked mental retardation syndrome associated with dysmorphic features (large everted ears, coarse facies, elongated -orchidism) in a proportion of cases. Around 1 in 5000 of the population is h fragile X, they are predominantly male but females can also be affected. Fragile X syndrome.
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404 likes · 1 talking about this. I am a parent of 2 fragile-x boys. Any other parents that have children with fragile-x syndrome and would like to exchange ideas, Fragile X syndrome is the most common known cause of inherited intellectual disability, affecting around 1 in 4000 males and about 1 in 6,000 females.
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It puts you at greater risk of getting coronary heart disease, stroke and other conditions that affect the blood vessels. 2021-04-02 · Ehlers-Danlos syndrome (EDS) is the name for a group of uncommon conditions that affect connective tissues. There are four main types of EDS, most of which can affect the joints in some way. Hypermobile EDS, previously known as EDS type III, is a form of the condition many experts now consider to be the same thing as joint hypermobility syndrome (JHS). The Fragile X gene is only carried on an X chromosome; both males and females may transmit a Fragile X (FMR1) gene on their X chromosome so either a man or a woman may be a carrier. The signs and symptoms of Fragile X syndrome have five general categories where individuals often show altered or arrested development. Se hela listan på cdc.gov Fragile X syndrome is the most frequently occurring cause of learning disability.