Conditions – Fragile X Syndrome

Fragile X Syndrome

Fragile X Syndrome is the most common inherited cause of intellectual disability. The X Chromosome is the location of the gene mutation in Fragile X Syndrome.

Affected individuals have more than 200 copies of the CGG repeat on the FMR1 gene which is present on the X chromosome. Around one in every 3600 male babies and one in every 6000 female babies are born with Fragile X Syndrome. A premutation, also called “carrier” is where an individual has between 50-200 repeats on the FMR1 gene.

People with Fragile X Syndrome can have an intellectual disability, learning difficulty and behavioural challenges. A movement disorder called Ataxia can also be seen in some people who are Fragile X Carriers and some female carries can have issues with fertility and early menopause.
The diagnosis is made on genetic testing and our doctors at Adelaide Disability Medical Services are happy to assist in this process. The South Australian Clinical Genetics Unit also plays an important role in genetic testing and counselling of individuals and family members.
There is no current cure for Fragile X Syndrome, but regular appointments with your doctor at Adelaide Disability Medical Services can help to look out for medical issues that may arise. We are also able to coordinate your care with Allied Health Professionals who may be involved to improve some of the challenges that you face, living with Fragile X Syndrome.

For more information about Fragile X please visit:

https://fragilex.org.au/

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