FRAXA syndrome
Definition:

FRAXA Syndrome (also, Fragile X) is a cause of mental retardation most commonly inherited by males in the family. It is the most commonly observed cause of autism.


Diagnosis:

DNA testing for FRAXA Syndrome is highly reliable. It can accurately detect if the ones tested are carriers or fully affected. Testing is done by blood extraction. People (most especially young children) are advised to have themselves tested once any of the symptoms are observed, more particularly developmental delay and mental retardation.


Treatment:

There is still no cure for this condition. Certain medicines are to be used.


Symptoms and Signs:

Common symptoms of FRAXA syndrome vary from mild to severe mental impairment or learning disabilities, attention deficit disorder or hyperactivity, anxiety and mood swings, autistic behavioral patterns, physical features of long face, large ears, and flat feet, and hyperextensible feature of the joints, most especially the fingers. Seizures are experienced by roughly 25% of those who suffer from this disorder.


Causes:

A defect in the body's genes, specifically the gene FMR1 is the cause of this condition. Whenever a person's FMR1 is defective he (or she) either suffers from FRAXA syndrome or becomes a carrier. This means, FRAXA syndrome may be passed down to the next generation.


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fraxasyndrome



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