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Canine Multiple System Degeneration (CMSD)

Breed: Estrela Mountain Dog/ Longhaired

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

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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