Degenerative Myelopathy Early-Onset Risk Modifier (Pembroke Welsh Corgi Type)

General Information: Degenerative Myelopathy (DM) is a hereditary neurological disorder affecting the spinal cord's white matter, leading to progressive muscle atrophy and loss of coordination, primarily in the hind limbs. In Pembroke Welsh Corgis, an additional mutation in the SP110 gene acts as a risk modifier for early onset of DM in dogs already carrying two copies of the common SOD1 gene mutation. Dogs affected by this condition usually present symptoms in adulthood, starting with hind limb weakness and gradually progressing to the inability to walk, loss of fecal and urinary continence, and, eventually, paralysis. While the disease is not typically painful, it significantly impacts the quality of life and often necessitates euthanasia once the dog becomes paraplegic. In breeds other than Pembroke Welsh Corgis, the impact of the SP110 mutation is less clear, but it is known to exacerbate DM symptoms and accelerate disease onset in Corgis with the SOD1 mutation. Identifying and understanding this mutation is crucial for managing and potentially mitigating the onset and progression of DM in Pembroke Welsh Corgis.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SP110 gene in Pembroke Welsh Corgis is essential to determine the presence of the early-onset risk modifier for Degenerative Myelopathy (DM). This risk modifier works in an autosomal dominant manner, meaning that dogs with two copies of the SOD1 mutation only need one copy of the SP110 mutation to have an increased risk of developing DM earlier. Genetic testing identifies carriers of the SP110 mutation, which can significantly inform breeding practices to reduce the likelihood of producing puppies that are at a higher risk of developing DM. Testing for this mutation is particularly important in dogs already known to carry the SOD1 mutation, as it helps breeders and owners understand the potential for early-onset DM and make informed decisions to prevent the spread of this debilitating disease. Dogs that are not carriers of either mutation do not have an increased risk of developing DM, highlighting the importance of genetic testing in maintaining healthy and resilient breeding lines and ensuring the long-term health of Pembroke Welsh Corgis.