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Myotubular Myopathy 1 (Boykin Spaniel Type)

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Test Overview:

Myotubular Myopathy 1 (Boykin Spaniel Type) affects dogs and is an inherited muscle disease. Affected dogs are generally normal at birth, but between 7 to 13 weeks of age, present with muscle weakness, decreased muscle mass, and exercise intolerance. Affected puppies have difficulties standing and holding their heads up. Their whiskers may be crinkled or bent. The disease rapidly progresses from generalised muscle weakness and frequent episodes of collapse to complete inability to stand or even raise their heads within 4 weeks of initial presentation. Dogs that can stand will have an arched back and neck and stiff gait. Although the disease is not painful, affected dogs are often euthanised early or die due to the rapid and severe progression of the disease.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

MTM1

Variant Detected:

chrX:120209973 (canFam4): C/T

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Genetic testing of the MTM1 gene will reliably determine if a dog is a genetic carrier of myotubular Myopathy 1 (Boykin Spaniel Type).

Research Citation(s):

Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD. A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. Neuromuscul Disord. 2020 May;30(5):353-359. [PubMed: 32417001] Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle. 2015 Jan 27;5(1):1. [PubMed: 25664165]

Associated Breed(s):

Boykin Spaniel,

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