World Fragile X Awareness Day is observed every year on 22 July to commemorate the rare genetic disease, Fragile X or Martin-Bell syndrome It was started in the year 2021 to raise awareness about.
Fragile X or Martin-Bell syndrome:
- Introduction:
- Fragile X syndrome (FXS) is a hereditary genetic disease that is passed from parents to children Which causes intellectual and developmental disabilities.
- in fxs boys Most common hereditary cause of mental retardation Is. It affects 1 in 4,000 boys.
- It is not common in girls, affecting about 1 in every 8,000. Boys usually have more severe symptoms than girls.
- Individuals with FXS typically experience developmental and learning problems.
- this disease long term or lifelong living condition. only some people with FXS independent form able to live with.
- Cause:
- fxs, X chromosome Caused by a defect in the FMR1 gene located on
- The FMR1 (Fragile X Mental Retardation 1 gene) gene is located on the X chromosome in humans. This FMRP (Fragile X Mental Retardation Protein) production of proteins called which plays an important role in normal brain development and function.
- risk:
- Carriers are more likely to experience early menopause, or menopause that begins before the age of 40.
- men who are carriers Fragile X Tremor Ataxia Syndrome (FXTAS) The risk of a condition called increases.
- progressive cerebellar ataxia, Tremor in motion, parkinsonism, and cognitive impairment are all symptoms of the condition.
- in addition to Difficulty walking and maintaining balance It is possible male carrier too dementia to grow more sensitive to Can be
- Related by inheritance:
- Women who have Fragile X have 50% chance of passing on the mutated gene to each child it occurs. If she passes on the affected gene, her Children will either be carriers or have Fragile X syndrome,
- In males with Fragile X, this sequence change is transmitted to all of their daughters but not to any of their sons. These daughters act as carriers but do not have fragile X syndrome.