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Neuroaxonal Dystrophy (Spanish Water Dog Type)

Neuroaxonal Dystrophy (NAD) in Spanish Water Dogs is a genetic neurological disorder characterized by abnormal gait, behavior changes, and progressive neurodegeneration, often leading to euthanasia within a year of diagnosis.

Affected Genes: TECPR2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr8:69946749: C>T

Breed: Spanish Water Dog

General Information: Neuroaxonal Dystrophy (NAD) in Spanish Water Dogs is an inherited, progressive neurological disease that typically manifests between 6 months and 1 year of age. Affected dogs show a variety of symptoms, including an abnormal gait, incontinence, and significant behavioral changes such as dullness, nervousness, and increased vocalization. Some dogs may also experience vision loss and decreased muscle tone as the disease progresses. Unfortunately, the severity of these symptoms often leads to euthanasia within a year of diagnosis due to the rapid decline in quality of life. Early signs can be subtle but progress quickly, leading to widespread neurodegeneration and significant impairment in motor and cognitive functions. Recognizing the early signs and providing supportive care can help manage symptoms, but there is no cure for NAD, making genetic testing and preventive breeding practices crucial.

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 for the TECPR2 gene is essential for identifying carriers of the mutation responsible for Neuroaxonal Dystrophy (NAD) in Spanish Water Dogs. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Dogs carrying only one copy of the mutation (carriers) typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing NAD and a 50% chance of being a carrier. Accurate genetic testing is critical for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing affected puppies. By ensuring that only non-carrier dogs are bred, breeders can help eliminate this severe neurological condition from Spanish Water Dog populations, promoting healthier and more resilient future generations. Genetic testing and careful breeding decisions are essential to prevent the perpetuation of this debilitating disorder and to maintain the health and integrity of the breed.

References:
Hahn K, Rohdin C, Jagannathan V, Wohlsein P, Baumgärtner W, Seehusen F, Spitzbarth I, Grandon R, Drögemüller C, Jäderlund KH. TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 2015 10(11).