Martin-Bell Syndrome

Brain & Nerve

Behavioral & Mental Health

Contributed byMaulik P. Purohit MD MPHJun 27, 2020

The topic Martin-Bell Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Fragile X Syndrome.

Quick Summary:

Fragile X syndrome (FXS) is a genetic condition characterized by intellectual development challenges due to changes in parts of the X (sex) chromosome. The syndrome is caused by mutations to the FMR1 gene on the X chromosome
This gene codes the instructions for making the FMR protein necessary for normal brain growth. When mutations are present, the body does not produce the protein or makes too little of it, resulting in intellectual disabilities
While most cases of Fragile X Syndrome are inherited, the syndrome may occur as a sporadic disorder (if there is no family history of the disorder). Genetic testing is the best method to diagnose this disorder
The common signs and symptoms of Fragile X Syndrome are mental retardation, speech/language delays, difficulty learning, and hyperactive behavior. It is often associated with other developmental disorders, including autism
There is no cure or prevention of Fragile X Syndrome. The outcome of individuals with the disorder highly depends on the severity of mental retardation

Please find comprehensive information on Fragile X Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

On the Article

Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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