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Canine Multiple System Degeneration (CMSD)

General

Disease Name
Canine Multiple System Degeneration (CMSD)
Mutation
c.1481C>T
Mutation 2
c.182+1_182+4delGTAA
Test Type
Genetic Disease/Disorder
Details
Canine multiple system degeneration is a fatal, hereditary disease of dogs comparable to familial, juvenile-onset Parkinson's disease of people. Affected pups appear normal until about 4 months of age. Early signs include head shakeing when they try to focus on something. Other signs are exaggerated, goose-stepping movements (cerebellar ataxia). Age of onset from 4 months, progressing to severe signs of disease at 12-18 months, and most becoming incapacitated by 2 years. Affected dogs have difficulty even starting a movement and fall frequently. This is not to be confused with a form of cerebellar ataxia observed in the Kerry Blue Terriers. Signs of the disease can appear simmilar.
Details 2
Head tremor and problems with balance ( 3-6 months). Gait abnormalities (ataxia), frequent falling, abnormal body posture and erratic eye movements. Complications lead to death or euthanasia ( 18-24 months)
Published
O'Brien, DP., Johnson, GS., Schnabel, RD., Khan, S., Coates, JR., Johnson, GC., Taylor, JF. : Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. J Hered 96:727-34, 2005. Pubmed reference: 15958791. DOI: 10.1093/jhered/esi086.
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