Fragile X syndrome (FXS) is a genetic disorder that causes a range of developmental problems, including learning disabilities and cognitive impairment. It is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). FXS is one of the most common causes of inherited intellectual disability.
Here are some key facts about Fragile X syndrome:
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Symptoms: Symptoms of FXS include intellectual disability, behavioral and learning challenges, and various physical characteristics. Males are usually more severely affected than females.
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Inheritance: FXS is inherited in an X-linked dominant pattern. This means that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.
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Treatment: There is no cure for FXS, but treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems.
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Associated disorders: Fragile X-associated disorders include Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). All three conditions result from changes in the same gene on the X chromosome.
Its important to note that there are many positive characteristics of people with Fragile X syndrome, such as being helpful, kind, thoughtful, and friendly.