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Myotubular Myopathy X-linked
Test Overview:
Myotubular Myopathy is an inherited muscle disease known to affect Labrador Retrievers. Affected puppies are typically normal at birth, but between 7 and 19 weeks of age they present with muscle weakness especially in the hind limbs, decreased muscle mass, a hoarse bark and difficulty eating. Puppies are smaller than littermates, walk with a short, choppy gait and often fall over. The disease rapidly progresses from generalized muscle weakness and frequent episodes of collapse to a complete inability to stand or even raise their heads within 4 weeks of initial presentation. Dogs that are able to stand have an arched back and neck. While the disease is not painful, affected dogs are often euthanized between 3 and 6 months of age due to the rapid and severe progression of the disease.
Category:
Musculoskeletal - Associated with muscles, bones and associated structures
Gene:
MTM1 on Chromosome X
Variant Detected:
Base Substitution c.465C>A
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal X-Linked
Research Citation(s):
Proc Natl Acad Sci U S A. 2010 Aug 17; 107(33):14697-702
Can Vet J. 2008 Apr; 49(4):393-7
Associated Breed(s):
Labradoodle , Labrador Retriever, Mixed Breed, Rottweiler ,
