World Fragile X Day 2023:
The World Fragile X Awareness Day is marked on 22nd July every year, started in 2021 to raise awareness about the rare genetic illness, Fragile X or Martin-Bell syndrome.
- Fragile X syndrome (FXS) is an inherited genetic disease passed down from parents to children that causes intellectual and developmental disabilities.
- FXS is the most common hereditary cause of mental disability in boys. It affects 1 in 4,000 boys.
- It’s less common in girls, affecting about 1 in every 8,000. Boys usually have more severe symptoms than girls.
- People with FXS usually experience a range of developmental and learning problems.
- The disease is a chronic or lifelong condition. Only some people with FXS are able to live independently.
- FXS is caused by a defect in the FMR1 gene located on the X chromosome.
- The FMR1 (Fragile X Mental Retardation 1 gene) gene is located on the X chromosome in humans.
- It is responsible for producing a protein called FMRP (Fragile X Mental Retardation Protein), which plays a crucial role in normal brain development and function.
- Women who are carriers are at an increased risk for premature menopause, or menopause that starts before the age of 40.
- Men who are carriers are at increased risk for a condition known as Fragile X Tremor Ataxia Syndrome (FXTAS).
