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Neuroaxonal Dystrophy

Affected Genes: RNF170

Inheritance: Autosomal Recessive

Variant(canFam6):
chr16:23423243-23423244 1 bp deletion G

General Information: Neuroaxonal Dystrophy is an inherited neurological disorder in dogs characterized by the progressive degeneration of nerve axons, leading to severe motor and sensory impairments. This condition results from a genetic mutation affecting the normal function of neurons. Dogs with two copies of the associated mutation are predisposed to Neuroaxonal Dystrophy, which can manifest at an early age. Symptoms include uncoordinated movements (ataxia), muscle weakness, tremors, vision problems, and behavioral changes. As the disease progresses, it can lead to significant neurological impairment and impact the dog's quality of life. While dogs with one copy of the mutation (carriers) typically do not show symptoms, they can pass the gene to their offspring. Early detection through genetic testing and careful breeding practices are essential for managing and potentially reducing the prevalence of Neuroaxonal Dystrophy.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the specific gene associated with Neuroaxonal Dystrophy can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.

References:
Cook SR, Schwarz C, Guevar J, Thun A, Assenmacher CA, Sheehy M, Fanzone N, Church ME, Murgiano L, Casal ML, Jagannathan V, Gutierrez-Quintana R, Lowrie M, Steffen F, Leeb T, and Ekenstedt KJ. RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum. Preprint from Research square