Cowchock Wapner Kurtz syndrome

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The Cowchock Syndrome or Cowchock Wapner Kurtz syndrome is a neuropathy which was named for the lead scientist of a team who did research on a family which was affected by this disease. The research was published in 1985.

Cowchock Syndrome is a rare, X-linked recessive disorder. It is caused by a defect in a particular gene on the X-chromosome. According to the website Online Mendelian Inheritance in Man, it causes "motor sensory neuropathy," which results in muscle weakness. It also frequently causes deafness and mental retardation.

Also according to OMIM, defects in this same gene are also responsible for Charcot-Marie-Tooth disease. Therefore, these two diseases are very closely related, although they exhibit some differences in the specific symptoms that were recorded. (This similarity between the diseases has created some confusion for student researchers at DCHS who were investigating X-linked diseases, so other students should beware that there is not much information about Cowchock disease in particular - it is better to look for information about Charcot-Marie-Tooth disease).

References

Cowchock, F. S.; Duckett, S. W.; Streletz, L. J.; Graziani, L. J.; Jackson, L. G. : X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am. J. Med. Genet. 20: 307-315, 1985.

OMIM website. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310490