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

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.