Fragile X syndrome (Martin-Bell syndrome, Escalante syndrome, FXS) is a genetic disorder characterized by insufficient development of the nervous system. Although there are still no effective treatments for Martin-Bell syndrome worldwide, doctors at the Top Ichilov clinic have learned to significantly alleviate the symptoms of this condition.
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Patients suffering from Martin-Bell syndrome typically exhibit intellectual disability, characteristic speech, increased aggression, and impulsivity. Sometimes, oligophrenia-like or schizophrenia-like symptoms are noted. Treatment of Fragile X syndrome in Israel is based on the latest advancements in global medicine.
Medication Therapy:
- Use of mGluR5 receptor antagonists. This group of new medications most effectively alleviates the symptoms of the disease. Currently, drugs from this group are undergoing clinical trials;
- Psychoactive medications (stimulants, antidepressants, selective serotonin reuptake inhibitors) help combat individual deviations in the patient's mental state;
- Lithium-based medications show good efficacy and improve behavioral functions, verbal memory, and social adaptation abilities;
- In Israel, there is an active search for new medications that can combat the effects of Fragile X syndrome. For example, clinical trials have shown that some antibiotics exhibit neuroprotective properties and can alleviate the symptoms of Martin-Bell syndrome.
Non-Medication Therapy:
- Cognitive-behavioral therapy aims to prevent psychological disorders and improve cognitive functions;
- Sessions with a speech therapist help eliminate speech disorders;
- Genetic counseling allows for assessing the risk of the disease manifesting in families with cases of Martin-Bell syndrome.
Thanks to the application of the latest advancements in pharmacology, genetics, and psychotherapy, doctors at the Top Ichilov hospital help patients with Fragile X syndrome significantly improve their condition. Treatment of Fragile X syndrome in Israel allows for the alleviation of disease symptoms and a return to a full life.
Typically, Martin-Bell syndrome affects males. The disease is named after Martin and Bell, the doctors who first described this condition in 1934. Martin and Bell examined a family from the United Kingdom, in which 11 males were diagnosed with "oligophrenia." According to statistics, Fragile X syndrome occurs once in every 1500 newborn boys.
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Diagnosis of Fragile X Syndrome
The methods for diagnosing Martin-Bell syndrome are based on the use of state-of-the-art equipment and the results of the latest scientific research:
- Endonuclease restriction (a method that allows for the cleavage of DNA at specific sites);
- Southern blotting (a molecular research method based on DNA fractionation);
- Investigation of CGG trinucleotide repeats in DNA using polymerase chain reaction.
Specialists at the Top Ichilov medical center have learned to diagnose Martin-Bell syndrome with high accuracy — in both children and adult patients. The Israeli Ministry of Health pays great attention to the development of genetics, so the treatment of Fragile X syndrome in Israel is based on the most modern achievements in this science.