Fragile X Syndrome
What is it?
Fragile X syndrome is a genetic disorder, caused by changes in the FMR1 gene. This gene encodes to the FMRP protein, needed for normal brain development. The disorder is characterized by an intellectual disability. The disorder has an X-linked recessive inheritance, typically caused by an expansion of the CGG triplet repeat within the gene on the X chromosome. Normally, there are 4-20 repeats, a permutation is when there are 40-200 repeats, and fragile x syndrome occurs when there are over 200 repeats. Although it affects both females and males, females usually have milder symptoms.
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Signs & symptoms
Fragile X syndrome symptoms may include developmental delays, learning disabilities, elongated face, large ears, strabismus, flat feet, larger testes, low muscle tone, recurring sinusitis and otitis media, stereotypical movements, atypical social development, shyness, limited eye contact, memory problems, some may be diagnosed with autism, ADHD and OCD. When growing up, women can have fertility problems.
Diagnosis
Diagnosis of fragile X syndrome is done in genetic tests. Prenatal diagnosis is also available.
Treatment
There is no cure for fragile X syndrome, but the focus should be on teaching these kids important skills in physical therapy, speech therapy, behavioral therapy, special education, and psychotherapy. Medications for symptoms-based treatment may be used for ADHD, for example.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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