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Muscular Dystrophy (Golden Retriever Type)

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Test Overview:

Muscular Dystrophy (Golden Retriever type) affects dogs (Golden Retrievers) and is an inherited disease. Dogs affected with this disease are unable to produce adequate amounts of a protein important for muscle contraction and relaxation. By 10 weeks of age, the affected puppies are noticeably smaller than their littermates shortly after birth due to the decreased growth associated with the inability to nurse. Affected dogs are often needed to be hand or bottle fed to prevent starvation. At around 6 weeks of age, dogs will begin to develop a progressively abnormal gait, excessive drooling, muscle weakness, muscle Atrophy of the head and trunk, abnormal extension or flexion of joints and a 'roach backed' appearance in the lumbar spine that will eventually progresses to a concave flexion. The affected dogs could also suffer from aspiration pneumonia and cardiac disease. The prognosis is related to the disease severity, with some dogs dying soon after birth due to disease complications and others surviving for years with only mild symptoms.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

DMD

Variant Detected:

chrX:27926946 (canFam3): A>G

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:

Genetic testing of the DMD gene will reliably determine if a dog is a genetic carrier of Golden Retriever muscular dystrophy.

Research Citation(s):

Brinkmeyer-Langford C, Kornegay JN. Comparative genomics of X-linked muscular dystrophies: The Golden Retriever Model. Curr Genomics. 2013 Aug;14(5):330-42. doi: 10.2174/13892029113149990004. [PubMed: 24403852] Kornegay JN, Bogan JR, Bogan DJ, Childers MK, Li J, Nghiem P, Detwiler DA, Larsen CA, Grange RW, Bhavaraju-Sanka RK, Tou S, Keene BP, Howard JF, Jr., Wang J, Fan Z, Schatzberg SJ, Styner MA, Flanigan KM, Xiao X, Hoffman EP. Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mamm Genome. 2012 Feb;23(1-2):85-108. doi: 10.1007/s00335-011-9382-y. Epub 2012 Jan 5. Review. [PubMed: 22218699] Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, Kettle S, Hung WY, Constantinou CD, Dykstra MJ, Roses AD, Bartlett RJ. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 1992 May;13(1):115-21. [PubMed: 1577476]

Associated Breed(s):

Goldador, Golden Retriever, Goldendoodle, Groodle,

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