Muscular Dystrophy Duchenne (MD) - Norfolk Terrier

Muscular dystrophy is a X-linked recessive disorder of sarcolemma dysfunction due to the absence of dystrophin, which results in an increased intracellular calcium and muscle fibre hypercontraction, followed by muscle fibre degeneration and necrosis. The clinical signs of affected dogs occur between 8 and 10 weeks of age and include advanced muscle weakness, shuffling gait or shortened stride, inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, respiratory problems, excessive salivation, abduction of front paws, crouched posture, prominent wasting of trunk muscles and cardiomyopathy. This result in the loss of mobility and reduced life expectancy.

Inheritance: X-linked recessive

Mutation: DMD gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.