VON WILLEBRAND DISEASE TYPE I
Description
A disease of mature dogs, this is a progressive degenerative disorder of the spinal cord that can cause muscle wasting and gait abnormalities. Affected dogs do not usually show signs until they are at least 8 years old, where the first signs of neural degeneration appear in the nerves that innervate the hind limbs. You may notice your dog scuffing the tops of his or her hind paws, or walking with a hesitant, exaggerated gait. In advanced cases, lower motor neurons are also affected leading to weakness or near-paralysis of all four legs and widespread muscle wasting. Given the advanced age at the time of onset, the treatment for DM is aimed towards making your dog comfortable in his or her old age and includes lifestyle changes and physical therapy.
SOD1 codes superoxide dismutase, an enzyme important in neutralizing free radicals and reactive oxygen species, both of which are produced as a byproduct of cell metabolism. If not neutralized, these are injurious to the cell and will cause premature cell death. The first system to show effects of this is the nervous system given the highly specialized and delicate nature of these cells. Please note that these mutations are reported to have incomplete penetrance: that is, while a dog with two copies of this mutation has a much greater chance of developing DM than a dog with one copy of the mutation, or none at all, other genetic and environmental factors will also contribute to whether your dog develops DM.
MORE INFORMATION
To learn more about this condition, you can visit http://www.caninegeneticdiseases.net/DM/basicDM.htm.
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