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Congenital Muscular Dystrophy (Discovered in the Italian Greyhound)

Congenital Muscular Dystrophy (CMD) is a progressive muscular disorder characterized by muscle wasting, formation of excess connective tissue in the muscles, and possibly abnormal nerve conduction. The associated genetic variant has been identified in the Italian Greyhound.

Key Signs

Muscle wasting, Progressive muscular dysfunction, Spinal curvature, Crouched posture, Stiff choppy gait, Poor appetite, Lethargy, Regurgitation

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with CMD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about CMD

Congenital Muscular Dystrophies are a group of inherited neuromuscular disorders. Clinical signs associated with Congenital Muscular Dystrophy, identified in the Italian Greyhound, will be present by a few months of age in affected dogs. Signs can include poor body condition with generalized muscle atrophy, muscular weakness, decreased reflexes, a stiff and short-strided gait, decreased appetite and regurgitation. Mentation of affected dogs generally remains normal. The condition is chronic and progressive, leading to muscle fibrosis and atrophy as well as potential joint contractures, limb and spinal deformities, mobility difficulties, and exercise intolerance. Cardiomyopathy (heart disease) is often a clinical sign in humans affected with the disorder, but it is not yet known if this is experienced by dogs with the condition. Blood chemistry can show persistent, marked elevation in serum creatine kinase concentrations and mild-moderate increases in ALT. Electromyography results can appear abnormal with widespread spontaneous activity. Histopathology may show general signs of muscular dystrophy and endomysial fibrosis, and immunofluorescent staining for alpha 2 laminin will show an absence of staining.

The long-term prognosis for CMD is poor as the condition is progressive and treatment is limited to supportive care. Affected dogs experiencing difficulty with movement may require assistance with routine tasks. Assessment of cardiac involvement can be considered based on clinical signs present. Welfare should be closely monitored as the disorder progresses, with humane euthanasia often necessary for more severely affected dogs.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Congenital Muscular Dystrophy (Discovered in the Italian Greyhound) variant can be safely bred with a clear dog with no copies of the Congenital Muscular Dystrophy (Discovered in the Italian Greyhound) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this CMD variant could develop due to a different genetic or clinical cause.

Technical Details

Gene LAMA2
Variant G>A
Chromosome 1
Coordinate 67,883,271

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Christen, M., Indzhova, V., Guo, L.T., Jagannathan, V., Leeb, T., Shelton, G.D., Brocal, J. (2021). LAMA2 nonsense variant in an Italian Greyhound with congenital muscular dystrophy. Genes (Basel), 12(11), 1823. View the article