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, the doctors at Top Ihilov Clinic have learned to significantly alleviate the symptoms of this condition.
Equipped with Advanced Scientific Achievements
Patients suffering from Martin-Bell Syndrome typically exhibit intellectual disability, characteristic speech, increased aggression, and hyperactivity. Sometimes, oligophrenic or schizophrenic-like symptoms are noted. Treatment for Fragile X Syndrome in Israel is based on the latest advancements in global medicine.
Medication Therapy:
- Use of mGluR5 glutamate receptor antagonists. This group of new medications most effectively alleviates the symptoms of the disorder. Currently, drugs from this group are undergoing clinical trials;
- Psychotropic 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 capabilities;
- In Israel, there is an active search for new medications that can combat the consequences 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 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, the doctors at Top Ihilov Hospital help patients with Fragile X Syndrome significantly improve their condition. Treatment for Fragile X Syndrome in Israel allows for the alleviation of 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 it in 1934. Martin and Bell examined a family from the UK in which 11 males were diagnosed with "oligophrenia." According to statistics, Fragile X Syndrome occurs once in every 1500 newborn boys.
Diagnosis of Fragile X Syndrome
The diagnostic methods for 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 the cleavage of DNA at specific sites);
- Southern blotting (a molecular research method based on DNA fractionation);
- Investigation of CGG trinucleotide repeats in DNA through polymerase chain reaction.
Specialists at Top Ihilov 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 treatment for Fragile X Syndrome in Israel is based on the most modern achievements in this science.