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Fragile X Syndrome

Also called: FRAXA, FXS

Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X.

People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include

  • Intelligence problems, ranging from learning disabilities to severe intellectual disabilities
  • Social and emotional problems, such as aggression in boys or shyness in girls
  • Speech and language problems, especially in boys

A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.

NIH: National Institute of Child Health and Human Development

Symptoms of Fragile X Syndrome

The following features are indicative of Fragile X Syndrome:
  • developmental delays
  • trouble in learning new skills
  • social and behavior problems
  • not making eye contact
  • anxiety
  • trouble paying attention
  • hand flapping
  • being very active

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Common Causes of Fragile X Syndrome

The following are the most common causes of Fragile X Syndrome:
  • mutation in FMR1 gene

Risk Factors for Fragile X Syndrome

The following factors may increase the likelihood of Fragile X Syndrome:
  • women and men with the premutation

Prevention of Fragile X Syndrome

No, it is not possible to prevent Fragile X Syndrome.
  • changes in the fragile X mental retardation 1 (FMR1) gene

Occurrence of Fragile X Syndrome

Number of Cases

The following are the number of Fragile X Syndrome cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Fragile X Syndrome most commonly occurs in the following age group:
  • Aged between 15-60 years

Common Gender

Fragile X Syndrome can occur in any gender.

Lab Tests and Procedures for Diagnosis of Fragile X Syndrome

The following lab tests and procedures are used to detect Fragile X Syndrome:
  • Blood test: To test a person's DNA

Doctor for Diagnosis of Fragile X Syndrome

Patients should visit the following specialists if they have symptoms of Fragile X Syndrome:
  • Medical geneticist
  • Pediatrician
  • Psychiatrist

Complications of Fragile X Syndrome if untreated

Yes, Fragile X Syndrome causes complications if it is not treated. Below is the list of complications and problems that may arise if Fragile X Syndrome is left untreated:
  • permanent decrease in visual acuity

Procedures for Treatment of Fragile X Syndrome

The following procedures are used to treat Fragile X Syndrome:
  • Speech therapy: Improve speech outcomes

Self-care for Fragile X Syndrome

The following self-care actions or lifestyle changes may help in the treatment or management of Fragile X Syndrome:
  • Avoid stress causing conditions
  • Avoid alcohol, smoking and opioids use: Protects against neurodegeneration

Alternative Medicine for Treatment of Fragile X Syndrome

The following alternate medicine and therapies are known to help in the treatment or management of Fragile X Syndrome:
  • Biofeedback therapy: Reduces stress
  • Do meditation: Reduce anxiety, improve mood and increase brain GABA levels

Patient Support for Treatment of Fragile X Syndrome

The following actions may help Fragile X Syndrome patients:
  • Join support groups: Increase the confidence in managing Fragile X Syndrome

Time for Treatment of Fragile X Syndrome

While time-period of treatment for each patient may vary, below is the typical time-period for Fragile X Syndrome to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Fragile X Syndrome.
Autism Spectrum Disorder
Developmental Disabilities

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