Muscular Dystrophy (Duchenne-type, DMD) GRMD
Breed: Cavalier King Charles Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Muscular Dystrophy (Duchenne-type, DMD) GRMD
OMIA
1081
Gene Name
DMD
Mutation
A>G intron 6 splice acceptor site
Mutation 2
c.7293+5G>T
Test Type
Genetic Disease/Disorder
Details
Muscular dystrophy refers to a group of more than thirty genetic conditions, causing a breakdown in the muscles involved with movement. This skeletal muscle disease is characterized by a progressive degeneration, leading to loss of muscle function and a weakness. Symptoms include: muscle stiffness, gait issues, muscle weakening, difficulty swallowing, progressive weakness, muscle atrophy and enlargement, difficulty swallowing - sometimes caused by a thickening tongue, loss of muscle mass, tremors, deformity of the limbs. Age of onset can be present from birth or very early in life, progressing with age. This condition usually affects males, though female cases have been documented and are often misdiagnosed. This progressive disease is normally fatal, or leads to euthanasia.
Details 2
Muscular dystrophy refers to a group of more than thirty genetic conditions, causing a breakdown in the muscles involved with movement. This skeletal muscle disease is characterized by a progressive degeneration caused by fibrosis leading to loss of muscle function and a weakness. Symptoms include: muscle stiffness, gait issues, muscle weakening, difficulty swallowing, progressive weakness, plantigrade stance, muscle atrophy and enlargement, difficulty swallowing, loss of muscle mass, tremors, deformity of the limbs. Age of onset can be present from birth or very early in life, progressing with age. This condition usually affects males, though female cases have been documented and are often misdiagnosed. This progressive disease is normally fatal, or leads to euthanasia.
Published
Sharp, N.J.H., Kornegay, J.N., Van Camp, S.D., Herbstreith, M.H., Secore, S.L., Kettle, S.A., Hung, W.Y., Constantinou, C.D., Dykstra, M.J., Roses, A.D. and Bartlett, R.J., 1992. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics, 13(1), pp.115-121.
Published 2
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ.: A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647, 2010. Pubmed reference: 20072625. DOI: 10.1371/journal.pone.0008647
Body/System/Process
Muscular
OMIA Url
Inheritance
XR
Breed Specific Info
Researched Breeds
Golden Retriever
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
GRMD: Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
GTP Disease Synonym
Muscular Dystrophy (Duchenne-type, DMD)
Gene Name
DMD
Mutation
c.7293+5G>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ.: A duchenne muscular dystro
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXDMD) . No breeding of affected males (XDMDY) nor of Carrier females (XXDMD). Weakness, a bunny hop gait, difficulty opening the jaw, curvature of the spine, muscle wasting ( 8-10 weeks of age). The disease is fatal.
Inheritance
XR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
GRMD: Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
GTP Disease Synonym
Dystrophin Muscular Dystrophy
Gene Name
DMD
Mutation
c.7293+5G>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ.: A duchenne muscular dystro
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXDMD) . No breeding of affected males (XDMDY) nor of Carrier females (XXDMD). Weakness, a bunny hop gait, difficulty opening the jaw, curvature of the spine, muscle wasting ( 8-10 weeks of age). The disease is fatal.
Inheritance
XR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
GRMD: Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
Gene Name
DMD
Mutation
c.7293+5G>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
GRMD: Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
GTP Disease Synonym
Dystrophin Muscular Dystrophy
Gene Name
DMD
Mutation
c.7293+5G>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ.: A duchenne muscular dystro
Application in the Breed
Female offspring of a carrier female should be genetically tested (XX or XXDMD) . No breeding of affected males (XDMDY) nor of Carrier females (XXDMD). Weakness, a bunny hop gait, difficulty opening the jaw, curvature of the spine, muscle wasting ( 8-10 weeks of age). The disease is fatal.
Inheritance
XR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
DMD
Mutation
c.7293+5G>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA