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Duchenne Muscular Dystrophy (Border Collie Type)

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Test Overview:

Duchenne Muscular Dystrophy (DMD) in Border Collies is a severe form of muscular dystrophy that predominantly affects male dogs due to its X-linked recessive inheritance pattern. This condition is caused by mutations in the gene responsible for producing dystrophin, a protein crucial for maintaining muscle integrity and function. Clinical Presentation: Dogs affected by DMD typically show symptoms early in life, including muscle weakness, difficulty standing, and a progressive loss of muscle mass. As the disease advances, it leads to severe mobility challenges and significantly impairs the quality of life. Genetic Testing and Management: Given the genetic nature of DMD, early diagnosis through DNA testing is essential. This allows for better management of the condition through supportive care and physical therapy, which can help in maintaining muscle function and improving life quality. Genetic testing also aids breeders in identifying carriers to prevent the propagation of the disease in future generations. Impact on Border Collies: This condition is particularly impactful in working breeds like the Border Collie, where physical agility and endurance are defining traits. Managing the health and breeding practices to mitigate this disease is crucial for maintaining the vigor and utility of this beloved breed.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

DMD

Variant Detected:

deletion c.2841delT chrX

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 X-Linked

Recommended Screening:

Immunofluorescence microscopy on vastus lateralis (VL) and CT muscles

Research Citation(s):

https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-018-0162-1

Associated Breed(s):

Border Collie,

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