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Centronuclear Myopathy /Inherited Myopathy (Great Dane Type)

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Test Overview:

Inherited Myopathy of Great Danes is a rare inherited degenerative muscle disorder affecting Great Danes. Affected dogs typically have an onset of symptoms before one year of age. Symptoms most commonly include difficulties exercising, muscle wasting and tremors brought on by exercise. Dogs may also have an abnormal posture with the hind legs tucked under the body and the tail extended. Occasionally dogs exhibit difficulty breathing. Most dogs that present with symptoms develop a severe, rapidly progressive form of the disease and are euthanized between 1 to 2 years of age. However, it has been reported that some dogs may have a more mild form of the disease and may live into adulthood without significant progression of the symptoms.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

BIN1

Variant Detected:

chr19:23522400 (canFam3): A>G

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Böhm J, Vasli N, Maurer M, Cowling BS, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet. 2013 Jun;9(6). [PubMed: 23754947] Feliu-Pascual Lujan A, Shelton GD, Targett MP, Long SN, Comerford EJ, McMillan C, Davies D, Rusbridge C, Mellor D, Chang KC, Anderson TJ. Inherited myopathy of great Danes. J Small Anim Pract. 2006 May;47(5):249-54. [PubMed: 16674719] McMillan CJ, Taylor SM, Shelton GD. Inherited myopathy in a young Great Dane. Can Vet J. 2006 Sep;47(9):891-3. [PubMed: 17017655]

Associated Breed(s):

Great Dane, Mixed Breed,

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