Beating Genetics

Dr. Braverman (right) and Dr. Blumen (4th from right) with guest lecturers

Dr. Braverman (right) presenting Mr. Avner Sofiov with a Certificate of Appreciation, and Mrs. Miriam Shimonov. Photographs: Tzion Yechezkel

OPMD – Ocularpharyngeal Muscular Dystrophy – is a genetic disease common amongst the Jews of Bukhara, which causes drooping eyelids and difficulty in swallowing – even reaching the extent of malnutrition. In an international symposium on the subject held at HYMC on Sunday, November 21st. 2010, organized by Dr. Sergiu Blumen of the Neurology Department and Dr. Itzhak Braverman, director of the Otolarygology Head & Neck surgery unit – who both head the national treatment service for OPMD patients – specialists from around the world met to discuss the various aspects ofthe disease from diagnosis to treatment.

Ocularpharyngeal Muscular Dystrophy - OPMD – is a genetic disease which affects 2 main phenomena: drooping eyelids and dysphagia, the latter of which can result in recurrent pneumonia. In severe cases we encounter death due to malnutrition.

The disease is common amongst Bukharan Jews, with a 1:700 ratio.

Despite this, since it is a dominant genetic disease unconnected to gender, we discern several other populations who suffer from it around the world, and there is a good possibility that many of these people do not even know that they carry the affected gene.

This symposium, held for the second time at HYMC, was entirely devoted to this unknown disease. 100 Neurology and Otolaryngology specialists from the various hospitals around the country were present, as well as others from around the world, including the UK, Holland, France and Canada.

"The main problem of the disease," states Dr. Blumen, a senior neurologist and head of the National OPMD Service here in HYMC, "is diagnosing it correctly. Many physicians don't recognize the symptoms and provide treatment for other maladies. Therefore, the correct treatment is not applied and can cause accumulating damage to the patient. Today we work in cooperation with the Molecular Genetics Department in Ha'Emek hospital in Afula to perform efficient genetic diagnoses, and together with the surgical solution we provide here in HYMC, we are able to address these symptoms as quickly as possible – something which we did not have until 4 years ago."

"During the previous symposium we held on the topic," said Dr. Braverman, head of the Otolaryngology and Head & Neck Surgery Unit, and co-director of the National OPMD Service, "we invited Prof. Jean Lacau St. Guily, head of Otolaryngology and Head & Neck Surgery at the Tenon Hospital in Paris, who showed us special surgical techniques used in France for improving the ability to swallow by slitting the upper esophageal muscle / ligament / pharyngeal sphincter. He is also one of our distinguished speakers today, to whom we have exhibited our successful surgical efforts as well as a full diagnostic and therapeutic support system."

In addition to the other notable guests, Mr. Avner Sofiov honored the symposium with his presence. His mother had been active in promoting OPMD diagnosis and treatment within the Bukharan community, but passed away due to the disease in 2006. Mr. Sofiov expressed his gratitude for the meeting, which was dedicated to her loving memory, describing how difficult it was for her to cope with the disease.

Dr. Meir Oren, the director of HYMC, who opened the meeting, spoke about the extraordinary national and international cooperation the hospital has with respect to helping OPMD patients. He also expressed his pride in HYMC being chosen to foot the national OPMD service. To this, Prof. Eliezer Shalev, the newly elected dean from the Technion's Faculty of Medicine, added his appreciation to Dr. Oren, Dr. Blumen and Dr. Braverman for their initiative in hosting this meeting, and pointed out HYMC's effort in striving for research and medical excellence in this field and others as well.