Fragile X syndrome

Fragile X syndrome

Fragile X syndrome (pronounced: /ˈfrajəl ˈeks ˈsɪndroʊm/) is a genetic disorder that causes a range of developmental problems including learning disabilities and cognitive impairment.

Etymology

The term "Fragile X" refers to one part of the X chromosome where the DNA is unstable. The term "syndrome" refers to the collection of traits often found together.

Symptoms

Fragile X syndrome can cause a variety of physical and mental health issues. These can include:

• Intellectual disability
• Behavioral problems
• Anxiety
• Hyperactivity
• Autism spectrum disorder
• Seizures

Causes

Fragile X syndrome is caused by a mutation in the FMR1 gene located on the X chromosome. This gene makes a protein needed for normal brain development. The mutation prevents the gene from producing this protein, which causes the symptoms of Fragile X syndrome.

Diagnosis

Diagnosis of Fragile X syndrome is typically made through a genetic test that looks for the mutation in the FMR1 gene.

Treatment

There is no cure for Fragile X syndrome, but treatment can help manage the symptoms. This can include:

• Educational therapy
• Behavioral therapy
• Medication

See also

• Genetic disorders
• X chromosome
• DNA
• Autism spectrum disorder

External links

• Medical encyclopedia article on Fragile X syndrome
• Wikipedia's article - Fragile X syndrome

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