Disease overview

Muscular dystrophy is a group of degenerative muscle disorders that are characterized by progressive muscle dysfunction. This type of dystrophy is caused by a mutation in the dystrophin gene, which leads to dysfunctional dystrophin protein. Dystrophin is necessary for normal muscle growth and function.

Gene name

DMD

Inheritance

X-Linked recessive

Signs and symptoms

Affected dogs will show signs of generalized muscle degeneration at a young age. This non-painful type presents as weakness and wasting, especially in the hind limbs and back. Muscle degeneration eventually leads to difficulty walking, swallowing, and breathing. Signs typically appear around 1-3 months of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Gaina G, Popa Gruianu A. Muscular dystrophy: Experimental animal models and therapeutic approaches (Review). Exp Ther Med. 2021 Jun;21(6):610. doi: 10.3892/etm.2021.10042. Epub 2021 Apr 14. PMID: 33936267; PMCID: PMC8082581.

Kornegay JN, Bogan JR, Bogan DJ, Childers MK, Grange RW. Golden retriever muscular dystrophy (GRMD): Developing and maintaining a colony and physiological functional measurements. Methods Mol Biol. 2011;709:105-23. doi: 10.1007/978-1-61737-982-6_7. PMID: 21194024.

Howell JM, Fletcher S, Kakulas BA, O'Hara M, Lochmuller H, Karpati G. Use of the dog model for Duchenne muscular dystrophy in gene therapy trials. Neuromuscul Disord. 1997 Jul;7(5):325-8. doi: 10.1016/s0960-8966(97)00057-6. PMID: 9267846.

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. PMID: 22218699; PMCID: PMC3911884.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.