Muscular Dystrophy
Breed: Golden Retriever
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Muscular Dystrophy
OMIA
679
Gene Name
DND
Mutation
c.531-2A>G
Test Type
Genetic Disease/Disorder
Details
This has been described as similar to human Duchenne muscular dystrophy, and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age.
Details 2
Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (?bunny hopping?), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002) [From OMIA, accessed 2019]
Body/System/Process
Musculature
OMIA Url
Inheritance
X
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
DND
Mutation
c.531-2A>G
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
GRMD
Gene Name
DND
Mutation
c.531-2A>G
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
DND
Mutation
c.531-2A>G