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Muscular Dystrophy (Norfolk Terrier Type)

Affected Genes: DMD

Inheritance: Autosomal Recessive

Variant(canFam6):
chrX:32598668: 1 bp deletion C

Breed: Norfolk Terrier

General Information: Muscular Dystrophy (Norfolk Terrier Type) is an inherited disorder in dogs characterized by progressive muscle degeneration and weakness. This condition results from a genetic mutation that affects the normal structure and function of muscle fibers. Dogs with two copies of the associated mutation are predisposed to Muscular Dystrophy, which can manifest in early puppyhood. Symptoms include difficulty walking, exercise intolerance, muscle atrophy, and a characteristic "bunny hopping" gait. As the disease progresses, it can lead to severe mobility issues and impact the dog's overall quality of life. While not all dogs with the mutation will show symptoms immediately, the condition typically worsens over time, necessitating supportive care and management to maintain mobility and comfort.

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 Muscular Dystrophy (Norfolk Terrier Type) can determine if a dog is a carrier of this condition. Muscular Dystrophy 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:
Jenkins CA and Forman OP. Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. Canine Genetics and Epidemiology 2015 2:7