X-linked myotubular myopathy (XL-MTM) - Boykin Spaniel

Myotubular myopathy is a X-linked recessive disorder. Affected infant male puppies show signs of facial, axial and proximal neuromuscular weakness with tetraparesis, difficulty holding the head up and a dropped jaw, including hypotonia and areflexia leading to respiratory insufficiency and death within 2 weeks. The symptoms usually occur postnatal and progress very quickly. The affected male puppies have to be euthanised due to progressive symptoms. On the other hand, female puppies often don’t show clinical signs, but they can also manifest a wide range of severities of clinical signs, in which asymmetry and facial involvement are frequent.

Inheritance: X-linked recessive - read more

Mutation: MTM1 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.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.



52.00 €

  • You can order free sampling kit.
  • Only one sample is required for each animal, even if you order several tests.
  • Samples are stored for the option to order additional tests.
  • We offer expert assistance in interpreting the results.
Suitable for breeds
It appears you are using an older browser we don't support fully! For better and user friendly experience use one of the following internet browsers or update your current browser to the latest version.