Fragile
Fragile X syndrome is a genetic disorder which results in intellectual disability, behavioral and learning challenges and various physical characteristics. It is also known as Martin-Bell syndrome or Escalante's syndrome.
Causes[edit | edit source]
Fragile X syndrome is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome. Males have one X and one Y chromosome and females have two X chromosomes. The presence of an abnormal gene on the X chromosome can lead to Fragile X syndrome.
Symptoms[edit | edit source]
The symptoms of Fragile X syndrome can vary and can include any of the following:
- Intellectual disability
- Behavioral and learning challenges
- Physical characteristics such as large ears, long face, soft skin and large testicles (in males)
Diagnosis[edit | edit source]
Diagnosis of Fragile X syndrome can be made through a DNA blood test. This test looks at the FMR1 gene on the X chromosome to see if it is normal or if it is mutated.
Treatment[edit | edit source]
There is currently no cure for Fragile X syndrome. However, treatment can help to manage symptoms and improve quality of life. Treatment may include any of the following:
- Educational therapy
- Medication
- Speech and language therapy
- Occupational therapy
- Behavioral therapy
See also[edit | edit source]
- Genetic disorders
- Intellectual disability
- Behavioral disorders
- Learning disabilities
- Physical characteristics
- DNA blood test
- FMR1 gene
- X chromosome
- Y chromosome
- Sex chromosomes
- Gene mutation
- Educational therapy
- Medication
- Speech and language therapy
- Occupational therapy
- Behavioral therapy
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Contributors: Prab R. Tumpati, MD