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Neuroaxonal Dystrophy (Giant Schnauzer Type)

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Test Overview:

Neuroaxonal Dystrophy (Giant Schnauzer Type) affects dogs and is an inherited neuromuscular disorder. This disorder affects the function of the motor nerve cells and disrupts normal muscle movement in Utero. Affected puppies will usually die of respiratory failure at birth as a result of underdeveloped lungs. Their joints will be contracted and immobile and their spines are curved. This condition is lethal because affected puppies cannot breathe on their own.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

MFN2

Variant Detected:

chr2:84289962-84289964 (canFam3): 3 bp deletion (GGA)

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 Recessive

Recommended Screening:

Genetic testing of the MFN2 gene will reliably determine if a dog is a genetic carrier of neuroaxonal dystrophy.

Research Citation(s):

Fyfe JC, Al-Tamimi RA, Castellani RJ, Rosenstein D, Goldowitz D, Henthorn PS. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. J Comp Neurol. 2010 Sep 15;518(18):3771-84. [PubMed: 20653033] Fyfe JC, Al-Tamimi RA, Liu J, Schäffer AA, Agarwala R, Henthorn PS. Neurogenetics. A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. 2011 Aug; 12(3):223-32. [PubMed: 21643798]

Associated Breed(s):

Giant Schnauzer,

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