The neurogenetics clinic specializes in
treating patients and their families who have inherited disorders that
have a neurologic component. In addition to evaluation, genetic testing
and interpretation of results, we also provide genetic counseling for
patients and their families so that they better understand their
disease and the implications for everyone in the family. Common
disorders for which we specialize include Huntington disease, the
spinocerebellar ataxias, neurofibromatosis, Pelizaeus-Merzbacher
disease, tuberous sclerosis, Charcot-Marie Tooth disease, Freidreich
ataxia and myotonic dystrophy to name a few. We also have a protocol
for testing at-risk individuals presymptomatically for adult onset
inherited disorders such as Huntington disease or the spinocerebellar
ataxias. This includes extensive counseling to make sure that a patient
has made a careful decision and is prepared to cope with the results
and all of the implications.
The neurogenetics clinic in the Department
of Neurology is directed by Dr. Garbern. Karen Krajewski, a certified
genetics counselor, and Dima El-Khechen can provide services such as
genetic testing,
education, and counseling for a wide variety of genetic disorders that
affect the nervous system including Huntington disease,
neurofibromaosis, hereditary spastic paraparesis, spinocerebellar
ataxias, Pelizaeus-Merzbacher disease (PMD), and muscular dystrophy. In
addition, an international consortium, with WSU as the U.S.
coordinating
center, has been developed to study patients with PMD. For more
information
about PMD, go to the:
PMD
Web page
For more information regarding
neurogenetics and Charcot-Marie Tooth disease, go to the:
CMT
Web page
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James Garbern, MD, PhD
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(313) 577-9776 voice
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John Kamholz, MD, PhD
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(313) 577-8317 voice
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Michael Shy, M.D.
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(313) 577-7552 fax
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Karen Krajewski, MS, CGC
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jgarbern@med.wayne.edu
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Dima El-Khechen, MS
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