22/07/2024
July 22nd is Fragile X Awareness Day!
Fragile X-associated Conditions are a family of inherited conditions caused by alterations (expansions) in the FMR1 gene (Fragile X gene) which is located on the X chromosome. These conditions include a wide range of physical, intellectual and behavioural symptoms that can affect family members in different ways.
It is estimated that about 90,000 people in Australia are impacted by Fragile X in some way – as carriers of Fragile X, or with Fragile X syndrome.
FRAGILE X SYNDROME
Fragile X syndrome is the leading cause of inherited intellectual disability, affecting about 1 in 4,000 males and about 1 in 6,000 females.
Both males and females can be carriers of the Fragile X gene alteration, and are called premutation carriers. About 1 in 250 women and 1 in 800 men are Fragile X premutation carriers.
CONDITIONS ASSOCIATED WITH BEING FRAGILE X PREMUTATION CARRIERS INCLUDE:
Fragile X-associated Tremor Ataxia syndrome (FXTAS): A neurological condition with symptoms including shaking (intention tremor), unsteadiness (ataxia) and memory problems. FXTAS is often misdiagnosed as Parkinson’s disease
Fragile X-associated Primary Ovarian Insufficiency (FXPOI): Which can lead to fertility problems and early menopause
Fragile X-associated Neuropsychiatric Disorders (FXAND): A term to describe a range of physical and psychological issues some carriers may experience
