Fragile X syndrome (FXS) is an inherited genetic condition. It’s also known as Martin-Bell syndrome. It is an inherited genetic disease passed from parents to children that causes intellectual and developmental disabilities. FXS is the most common hereditary cause of mental disability in boys. People with FXS usually experience developmental and learning problems. This disease is a chronic or lifelong condition. Only some people with FXS are able to live independently.
Symptoms of Fragile X Syndrome:
- Development delays, such as taking longer than normal to sit, walk, or talk compared with other children of the same age
- Intellectual and learning disabilities such as trouble in learning new skills
- General or social anxiety
- Social issues like not making eye contact with other people, disliked being touched and trouble in understanding body language
- Hyperactivity
- Depression and difficulty in sleeping
Causes Fragile X Syndrome
FXS is caused by a defect in the FMR1 gene which is located on the X chromosome. The defect or mutation on the FMR1 gene prevents the gene from properly making a protein called the fragile X mental retardation 1 protein. This protein plays a role in the functioning of the nervous system. A lack or shortage of this protein causes the symptoms characteristic of FXS.
Fragile X Syndrome can be diagnosed in children if head circumference or facial feature changes at young age. FXS can be diagnosed using a DNA blood test called the FMR1 DNA test. The test looks for changes in the FMR1 gene that are associated with FXS. Depending on the results, your doctor may choose to do additional testing to determine the severity of the condition.
Fragile X Syndrome can be cured to a less extent by medications like methylphenidate (Ritalin), guanfacine (Intuniv), clonidine (Catapres).