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Myotubular Myopathy X-linked

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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 ,