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Muscular Dystrophy (Golden Retriever Type)

Golden Retriever muscular dystrophy is an inherited X-linked recessive disorder that impairs the production of a protein essential for muscle contraction and relaxation, leading to symptoms such as muscle weakness, abnormal gait, excessive drooling, and muscle atrophy, often requiring hand feeding and resulting in variable prognosis depending on disease severity.

Affected Genes: DMD

Inheritance: X-Linked Recessive

Variant(canFam6):
chrX:32917650: T>C

Breed: Australian Cobberdog
Golden Retriever
Goldendoodle*

General Information: Golden Retriever muscular dystrophy is an inherited disease that prevents the production of a protein crucial for muscle contraction and relaxation. Affected puppies are noticeably smaller by 10 weeks of age due to decreased growth and may require hand feeding. Symptoms begin around 6 weeks, including abnormal gait, muscle weakness, excessive drooling, and muscle atrophy, along with joint deformities and a "roach-backed" appearance. Affected dogs are at risk for aspiration pneumonia and cardiac disease. The prognosis varies, with some dogs dying soon after birth and others living for years with mild symptoms.

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 DMD gene can identify carriers of Golden Retriever muscular dystrophy, an X-linked recessive disorder. Female dogs need two copies of the mutated gene to develop the disease, while male dogs only require one, making them more likely to show symptoms. Each male pup from a carrier female has a 50% chance of inheriting the disease. To prevent affected litters, it is recommended not to breed known carriers. Dogs without the mutation do not have an increased risk of producing affected pups.

References:
Brinkmeyer-Langford C, Kornegay JN. Comparative genomics of X-linked muscular dystrophies: The Golden Retriever Model. Curr Genomics 2013 14(5):330-342.

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 23(1-2):85-108.

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 13(1):115-121.