A Little About Fragile X Syndrome Associated Disorders

 

Fragile X Associated Disorders are genetic, and a the name suggests are linked to the X chromosome...

 

It was once thought that only those with Fragile X Syndrome were directly affected and thos who carried and passed on the pre:mutated gene, so called "carriers" had no problems associated with carrying the premutated gene, we now know this not to be the case and that carrier disorders are very common.

Below are the main disorders associated with the mutated Fragile X gene and a little about them, you will also find pictures linking to various Fragile X societies/associations/help groups around the world.

 

Fragile X Syndrome (FXS)

FXS is the most common inherited cause of learning disability, it affects approximately 1 in 4000 males and 1 in 8000 females, it can cause a wide range of difficulties with learning as well as social anxiety, language delays and ongoing language problems, attention difficulties, emotional and behavioural problems.

FXS is caused when a carrier's premutated gene has expanded when pased frommother to child, fathers also pass X chromosomes to their daughters but there aren't any known cases where the gene has expanded to cause FXS when passed from father to daughter, where a father is a carrier he passes the premutated carrier gene unexpanded to all his daughters making them carriers too.

 

Fragile X Carriers (Carriers)

Carriers can be affected by many conditions related to their carrier status, but not all carriers are affected by them. Here are themain conditions that can affect carriers:

 

Fragile X Tremor Associated Ataxia (FXTAS)

FXTAS is a neurological condition which usually, but not always presents itself from sixty onwards, it's often misdiagnosed as Parkinson's disease due to the similarity of the symptons. This is often the case when Fragile X has not yet been diagnosed in a family so the carrier is unaware they carry the premutation. 

 

Fragile X Premature Ovarian Insufficiency - or failure (FXPOI)

FXPOI can affect young women as early as their teens, it can cause sporadic menstruation, low fertility and often complete infertility due to premature menopause, menopause usually occurs before the carrier reaches forty. Once again problems aren't recognised as being Fragile X related if the carrier is undiagnosed so it is particularly important that carriers are diagnosed early so that if a young woman is at risk of FXPOI she can be informed of the options and treatments available to her.

 

Fragile X Associated Neuropsychiatric Disorders (FXAND)

FXAND has only recently been given a label by specialists in the field of FX, it is known that many carriers suffer from neuropsychiatric problems, particularly anxiety and depression, but many are also affected by substance abuse, ADHD and OCD. These problems are often made worse due to the fact that a great many carriers also suffer from autoimmune diseases, fibromyalgia, chronic pain and chronic fatigue syndromes, and/or sleep problems.

 

For more information click on the photos below to visit the linked web sites.

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