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Limb-girdle Muscular Dystrophy, Type 2F (Boston Terrier Type)

Affected Genes: SGCD

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:53245912-53245913 2 bp deletion TC

Breed: Boston Terrier

General Information: Limb-girdle Muscular Dystrophy, Type 2F (Boston Terrier Type) is an inherited disorder in dogs characterized by progressive muscle weakness and wasting, particularly affecting the muscles around the shoulders and hips. This condition is caused by a mutation in the gene responsible for producing a protein critical for muscle integrity. Dogs with two copies of the associated mutation are predisposed to this condition, which typically manifests in early adulthood. Symptoms include difficulty rising, reluctance to run or jump, exercise intolerance, and a waddling gait. As the disease progresses, it can lead to severe mobility issues and general muscle atrophy. There is no cure, but physical therapy and supportive care can help manage symptoms and improve the quality of life for affected dogs.

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 gene associated with Limb-girdle Muscular Dystrophy, Type 2F (Boston Terrier Type) can determine if a dog is a carrier of this condition. This condition 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:
Cox ML, Evans JM, Davis AG, Guo LT, Levy JR, Starr-Moss AN, Salmela E, Hytönen MK, Lohi H, Campbell KP, Clark LA, Shelton GD. Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle. 2017 7(1):15.