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

v • d • e Nervous system pathology, primarily PNS (G50-G99, 350-359) Nerve, nerve root and plexus disorders (neuropathy, radiculopathy, plexopathy) cranial nerve: V (Trigeminal neuralgia) - VII (Facial nerve paralysis, Bell's palsy, Melkersson-Rosenthal syndrome, Central seven) - XI (Accessory nerve disorder) nerve root and plexus: Brachial plexus lesion - Thoracic outlet syndrome - Phantom limb mononeuropathy: upper limb (Carpal tunnel syndrome, Ulnar nerve entrapment, Radial neuropathy) - Causalgia - lower limb (Meralgia paraesthetica, Tarsal tunnel syndrome, Morton's neuroma) - Mononeuritis multiplex Polyneuropathies and other disorders of the PNS hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease, Dejerine Sottas syndrome, Refsum's disease) Guillain-Barré syndrome - Alcoholic polyneuropathy Diseases of myoneural junction autoimmune: Myasthenia gravis - Lambert-Eaton myasthenic syndrome Diseases of muscle (myopathy)/ neuromuscular disease Muscular dystrophy myotonic (Myotonic dystrophy, Myotonia congenita, Thomsen disease, Neuromyotonia, Paramyotonia congenita) congenital myopathy (Centronuclear myopathy, Nemaline myopathy, Central core disease) Mitochondrial myopathy periodic paralysis: Hypokalemic - Hyperkalemic Dysautonomia/ Autonomic neuropathy Hereditary sensory and autonomic neuropathy (Familial dysautonomia) - Horner's syndrome - Multiple system atrophy (Shy-Drager syndrome, Olivopontocerebellar atrophy)