Hereditary Deafness (PTPRQ) is a congenital syndrome of hearing loss and vestibular dysfunction that affects Doberman Pinschers. Clinical signs of the disease appear very soon after birth. Affected animals can exhibit complete or partial deafness. Progressive neuroepithelial cochlear degeneration characterized by a loss of the auditory sensory cells in the inner ear is visible in affected animals. Puppies exhibit symptoms of vestibular disease which include ataxia, an unusual gait, lack of muscle coordination, head tilting and walking or pacing in circles.
Inheritance: autosomal recessive - read more
Mutation: PTPRQ gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.