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Spinal Dysraphism (Weimaraner Type)

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Description:

This is an inherited developmental neurological disorder secondary to spinal cord malformation in the Weimaraner breed. It is estimated 3% are carriers of the causative gene.

Neural tube defects have been described in other dog breeds, such as the Dalmatian, Rottweiler, West Highland White Terrier, German Shepherd, Golden Retriever, and Alaskan Malamute, but the causative mutation has been identified only in the Weimaraner.

Clinical signs vary in severity in part depending on location of spinal cord defects. Affected puppies typically become clinical at 4 to 6 weeks of age with a “symmetrical bunny hopping” gait, a crouching, wide-based stance, and abnormal spinal reflexes in the hind limbs with proprioceptive deficits. Abnormal hair growth along the back, curvature of the spine, malformed sternum and kinked tails have also been reported.

Clinical signs of the disease do not progress in severity with age.

Other forms of spinal dysraphism can be caused by infection, trauma or tumors that will affect the spinal cord. Further diagnostics of affected dogs may include radiography, a myelogram and cerebrospinal fluid analysis.

Category:

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

Gene:

NKX2-8

Variant Detected:

c.174del_G;ins2bp(AA)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

PLoS Genet. 2013;9(7):e1003646.

Associated Breed(s):

Weimaraner, Weimaraner Long Hair ,

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