Muscular dystrophy (MD)

General description

Dogs affected by Muscular Dystrophy show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy. Syptoms might show as whole-body muscular weakness and clumsy motion.
In the breed American Staffordshire Terrier, a variant of the COL6A3 gene has been identified to cause congenital muscular dystrophy. First symptoms like progressive gait abnormalities and joint contracture become obvious at the age of 6 months.

Breeds

American Staffordshire Terrier, Cavalier King Charles Spaniel, Golden Retriever, Landseer, Norfolk Terrier

Detailed description

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy.

Muscular dystrophy in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs. Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy.

Landseer muscular dystrophy is inherited as an autosomal recessive trait. Affected dogs exhibit a general, whole body muscular weakness, they move slowly and clumsy and some cannot walk at all. First symptoms in the course of movement appear at the age of three to six month. Affected dogs usually die between the ages of 4 and 24 months.

In the breed American Staffordshire Terrier, a variant of the COL6A3 gene has been identified to cause congenital muscular dystrophy. First symptoms like progressive gait abnormalities and joint contracture become obvious at the age of 6 months. Affected dogs show diffuse muscle atrophy and multifocal joint contracture with reduced range of motion and marked thickening of the elbow and stifle joints, along with distal limb joint hyperlaxity. Additional symptoms are severe generalized weakness, such that they had difficulty rising and ambulating, as well as ambulatory tetraparesis with a stiff, choppy, short-strided gait in all limbs without obvious ataxia. Weak withdrawal reflexes were seen in all limbs.

Muscular Dystrophy - Cavalier King Charles Spaniel

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy. Muscular dystrophy in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs. Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy.

Order details
Test number8068
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexmuscular
Causalitycausally
GeneDMD
MutationC-A
LiteratureOMIA:001081-9615

Muscular Dystrophy - Golden Retriever

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy. Muscular dystrophy in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs. Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy.

Order details
Test number8068
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexmuscular
Causalitycausally
GeneDMD
MutationT-C
LiteratureOMIA:001081-9615

Muscular Dystrophy - Norfolk Terrier

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy. Muscular dystrophy in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs. Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy.

Order details
Test number8068
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexmuscular
Causalitycausally
GeneDMD
MutationDEL
LiteratureOMIA:001081-9615

Muscular Dystrophy - American Staffordshire Terrier

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy. In the breed American Staffordshire Terrier, a variant of the COL6A3 gene has been identified to cause congenital muscular dystrophy. First symptoms like progressive gait abnormalities and joint contracture become obvious at the age of 6 months. Affected dogs show diffuse muscle atrophy and multifocal joint contracture with reduced range of motion and marked thickening of the elbow and stifle joints, along with distal limb joint hyperlaxity. Additional symptoms are severe generalized weakness, such that they had difficulty rising and ambulating, as well as ambulatory tetraparesis with a stiff, choppy, short-strided gait in all limbs without obvious ataxia. Weak withdrawal reflexes were seen in all limbs.

Order details
Test number8068
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexmuscular
Age of onset6 months
Causalitycausally
GeneCOL6A3
MutationDEL
LiteratureOMIA:002274-9615

Muscular Dystrophy - Landseer

Muscular dystrophy (MD) is a slowly progressive, hereditary muscular atrophy. Landseer muscular dystrophy is inherited as an autosomal recessive trait. Affected dogs exhibit a general, whole body muscular weakness, they move slowly and clumsy and some cannot walk at all. First symptoms in the course of movement appear at the age of three to six month. Affected dogs usually die between the ages of 4 and 24 months.

Order details
Test number8068
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexmuscular
Age of onset3-6 months
Causalitycausally
GeneCOL6A1
MutationG-T
LiteratureOMIA:001967-9615