What are the symptoms of Fragile X syndrome? - NICHD
2021年8月5日 · People with Fragile X have some symptoms in common, including intellectual problems, physical features unique to this syndrome, behavioral challenges, speech and language problems, and sensory issues.
Fragile X Syndrome - NICHD - Eunice Kennedy Shriver National …
2013年11月7日 · The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability. NICHD supports and conducts research on the diagnosis, treatment, management, prevention, and inheritance of Fragile X and its associated conditions, Fragile X ...
What are the symptoms of Fragile X-Associated Tremor and Ataxia …
Although FXTAS affects individuals differently, the symptoms of the disorder are similar to those of Parkinson's or Alzheimer's disease, including memory loss, slowed speech, tremors, and a shuffling gait. 1 Some people will have many symptoms that appear quickly and get worse over time. Others have only a few mild symptoms. 2
Fragile X Syndrome | NICHD - NICHD - Eunice Kennedy Shriver …
2021年8月5日 · The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability. Fragile X Syndrome | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)
2022年4月25日 · FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome.
About Fragile X Syndrome | NICHD - NICHD - Eunice Kennedy …
2021年8月5日 · Fragile X syndrome is the most common form of inherited intellectual and developmental disability (IDD). People with Fragile X syndrome may not have noticeable symptoms, or they can have more serious symptoms that range from learning disabilities to cognitive and behavior problems.
What causes Fragile X syndrome? | NICHD - NICHD - Eunice …
2022年4月25日 · Fragile X results from a change or mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein, called FMRP, that is important for creating and maintaining connections between cells in the brain and nervous system.
Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)
2012年5月18日 · FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome. NICHD-supported researchers were the first to identify FXTAS and link it to changes in the ...
What are the treatments for Fragile X syndrome? - NICHD
2021年8月5日 · There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.
How do healthcare providers diagnose Fragile X syndrome?
A healthcare provider can perform developmental screening to determine the nature of delays in a child. If a healthcare provider suspects the child has Fragile X syndrome, he/she can refer parents to a clinical geneticist, who can perform a genetic test for Fragile X syndrome. 2