Canine Multiple System Degeneration (CMSD)
Breed: Kerry Blue Terrier
Generic Phene Data
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
Relevance Rating: All current available evidence has been reviewed, but relevancy is inconclusive, AND/OR the clinical form of this disease has never been seen for these breeds
General
Disease Name
Canine Multiple System Degeneration (CMSD)
OMIA
1468
Gene Name
SERAC1
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.
Published 2
Zeng, R. 2013. Doctoral Dissertation, University of Missouri: Molecular genetic studies in canine inherited diseases including neonatal cerebellar ataxia, degenerative myelopathy and multiple system degeneration, Chapter 5: Canine Multiple System Degeneration: Next Generation Whole Genome Sequencing Revealed Two SERAC1 Mutations Causing Canine Multiple System Degeneration. 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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
SERAC2
Mutation
c.1481C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
SERAC1
Mutation
c.1481C>T
Nature of test
mutation test
FCI Number
3
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
SERAC1
Mutation
c.1482G>A
Mutation Comment
g.47605147C>T
Nature of test
mutation test
FCI Number
3
GTP Breed
Kerry Blue Terrier
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
SERAC1
Mutation
c.1481C>T
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
SERAC1
Mutation
c.1481C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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, 2
Application in the Breed
Carriers may be bred to normal animals (N/cmsd x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/cmsd x N/cmsd) nor of affected animals (cmsd/cmsd). Tremor and problems with balance ( 3-6 months). Gait abnormalities , frequent falling, abnormal body posture and erratic eye movements. Complications lead to death or euthanasia ( 18-24 months)
Inheritance
AR
FCI Number
3
GTP Breed
Kerry Blue Terrier
Key Comment