Fragile X Syndrome
What is Fragile X Syndrome?
Fragile X Syndrome is an inherited genetic disorder. It is caused by a mutation of the FMR1 gene on the X chromosome. The FMR1 gene is responsible for providing instructions to your body to produce a protein called FMRP. This protein helps form connections between your nerve cells that relay nerve impulses. The mutation of the FMR1 gene causes a part of your DNA that normally replicates 5 to 40 times, to replicate over 200 times. This disrupts the nervous system.
Fragile X Syndrome can present significant symptoms that provide great challenges, while others are so minor that it may never be diagnosed.
Some of the symptoms may include:
- A long face
- Large ears
- Disjointed limbs
- Flat feet
- Self injurious behaviour
- Seizures
- Higher levels of aggressiveness
- Intellectual impairment
- Delayed or abnormal speech
- Anxiety
- Depression
- Obsessive-compulsive behaviours
- Attention-deficit/hyperactivity disorder (ADHD)
- Sensory disorders
