A progressive type of muscular dystrophy in middle-aged Jews
of Bukharan origin that causes their eyelids to droop and
makes swallowing difficult results from a genetic defect
that first appeared in a single ancestor around the year
1243, according to research conducted at the Technion in
Haifa.
The rare disease, called oculopharyngeal MK, can be found
worldwide, but is particularly prevalent among Jews from
Bukhara, in Uzbekistan, and French-Canadian gentiles.
Dr. Sergio Blumen, a lecturer at the Technion's Rappaport
Medical Faculty and a neurologist at Hillel Yaffe Hospital
in Hadera, headed a team that studied 23 Israelis of
Bukharan origin with the disease.
Although the families were not related, they all shared the
disease. Blumen and his colleagues (from Hillel Yaffe and
Ichilov hospital in Israel and McGill University in
Montreal) reported their findings in a recent issue of the
journals Neurology and Annals of Neurology.
The mutated gene is dominant, meaning that the disease can
appear in one affected parent.
While there is no cure, the discovery of the disease and the
genetic defect that causes it makes accurate diagnosis
possible, thus preventing mental anguish due to uncertainty.
Drooping eyelids are also a symptom of myasthenia gravis
(MG), an autoimmune disease.
Now a simple blood test can be performed in the laboratory
of Dr. Ruth Navon at Meir Hospital, Kfar Sava, to determine
whether the patient has or will become ill with
oculopharyngeal MK. Symptoms can be relieved by surgery on
the eyelids and short-term treatment for swallowing
problems.
The mutation apparently appeared in Canada when three
sisters from France emigrated to Quebec in 1648; all current
patients in Canada are reportedly descendants of these
sisters.
Bukharan Jews were a well-defined ethnic group by the second
half of the 16h century. Three centuries later, they
absorbed a new wave of Jews fleeing religious persecution in
Persia. In 1987, there were 85,000 Bukharan Jews, 32,000 of
whom were in Israel. Today, most Bukharan Jews live in
Israel.
