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Muscular Dystrophy (Duchenne-type, DMD) GRMD

Breed: Cavalier King Charles Spaniel

Generic Phene Data

General

Disease Name
Muscular Dystrophy (Duchenne-type, DMD) GRMD
Disease Name 2
Muscular Dystrophy, Duchenne Type or Golden Retriever Muscular Dystrophy (GRMD)
OMIA
1081
Gene Name
Dystrophin
Gene Name 2
DMD
Mutation
A>G intron 6 splice acceptor site
Mutation 2
c.7293+5G>T
OMIM
310200
Disease Code
GRMD
Disease Code 2
DMD
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
GRMD: X-linked Duchenne Muscular Dystrophy, Golden Retriever X-linked Duchenne Muscular Dystrophy, GRMD, Japanese Spitz Muscular Dystrophy (JSMD)
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
Inheritance
XR
Gene Name Text
Dystrophin

Breed Specific Data

CAG GmbH Center for Animal Genetics

Link to GTP
GTP Disease Name
GRMD: Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD)
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

Embark

Link to GTP
GTP
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

Genoscoper Laboratories Oy

Link to GTP
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

Laboklin Gmbh & Co. KG

Link to GTP
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

Wisdom Health (formerly Mars Veterinary)

Link to GTP
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

EVG Diagnostics

Link to GTP
Gene Name
DMD
Mutation
c.7293+5G>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Plos One V5 I1 2010

VetGen LLC

Link to GTP
Gene Name
DMD
Mutation
c.7293+5G>T
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