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Dystonia and the Jewish CommunityClick here for PDF fact sheetDystonia is a painful, disabling disease for
which there is no cure. For almost three decades, a small but growing group of
scientists has labored to understand how and why dystonia occurs—and how to
stop it. The answers needed to
cure this disease may very well lie in the study of one specific form that is
particularly prominent in persons of Ashkenazi
Jewish descent, called early onset
torsion dystonia. This community has suffered greatly from this disease,
and it is believed that better treatments and ultimately a cure are possible by
paying close attention to how dystonia affects Ashkenazi Jews both as a
population and as individuals.
- In 1911, the disease was originally called “dystonia musculorum deformans.”
- This form of dystonia was discovered to be caused by a
mutation in a gene called DYT1.
- Thousands of Ashkenazi Jewish families in North
America are estimated to carry the mutated DYT1 gene
- A genetic test is available to determine if a
person is a carrier of the DYT1 gene, though an individual who has the gene may not develop symptoms of dystonia.
What is known?
- We know that there is
a higher prevalence of DYT1 dystonia in Ashkenazi Jews. Medical literature is
lacking in definite data regarding the frequency and prevalence of this
disorder, but the latest sources state that less than 1 percent of the overall population are carriers of the DYT1
mutation. Among Ashkenazi Jews, the frequency is at least 3-5 times higher.
We know that a
mutation in the DYT1 gene is associated with early onset dystonia, but not all
persons who develop this disease have the mutation.
- 90 percent of Ashkenazi Jews who develop early onset
disease have the DYT1 mutation,
but only about 50 percent of non-Jews with the same disorder have the mutation.
Therefore, there are probably other genes that are involved in some individuals,
especially non-Jews.
Why is the DYT1 mutation more prevalent in Ashkenazi
Jews?
- The Ashkenazim
accounts for 80 percent of all Jews. The Ashkenazim is a group in which a
number of genetically inherited diseases occur at an unusually high frequency as
compared to non-Jewish populations. For many of these disorders, a causative
gene has been identified and 2-3 mutations are found to cause most cases (90
percent+) of the disease within the group.
- There are several explanations for why a given population may have a
higher prevalence of a genetic disorder than the general population. The most
plausible explanation is a “founder effect.” A disease may become common within a population because all
individuals within the population are descended from a small number of
ancestors, and one or a few of the ancestors were affected by the disease.
What is the Importance of Studying DYT1 Dystonia?A better
understanding of DYT1 dystonia will contribute hugely to the greater field of
dystonia research. These studies provide a helpful model of dystonia in terms
of:
- How the DYT1 gene mutation biochemically affects cells and the nervous system.
- How the familial forms of dystonia are inherited, and why symptoms within a family may vary.
- Achieving a better
understanding of how dystonia affects populations, and especially the
Jewish community.
- All of these elements
will illuminate a route to better treatments and a cure.
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