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Neuroaxonal Dystrophy (Miniature American Shepherd Type)

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Test Overview:

Neuroaxonal Dystrophy is a rare neurodegenerative disease that affect dogs. Affects dogs will usually exhibit ataxia, pelvic limb weaknesses and gait abnormalities. However, dogs usually have a long lifespan.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

RNF170

Variant Detected:

c.367delG

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier of Neuroaxonal Dystrophy.

Research Citation(s):

Shawna R. Cook, Cleo Schwarz, Julien Guevar, Charles-Antoine Assenmacher et. al: RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum; posted 01 Feb, 2024

Associated Breed(s):

Miniature American Shepherd,

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