Disease overview

Muscular dystrophy is a group of degenerative muscle disorders that are characterized by progressive muscle dysfunction. This type is caused by a mutation in the LAMA2 gene. This is a congenital disease leading to changes in muscle function as early as 2 months of age.

Gene name

LAMA2

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs exhibit poor growth and muscle atrophy, as well as abnormal short-strided gait and generalized weakness around 2 months of age. Dogs may have difficulty walking, swallowing, and breathing, which can lead to regurgitation, lethargy, and exercise intolerance.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory testing as well as muscle biopsies can aid in diagnosis. 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

Christen M, Indzhova V, Guo LT, Jagannathan V, Leeb T, Shelton GD, Brocal J. LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy. Genes (Basel). 2021 Nov 19;12(11):1823. doi: 10.3390/genes12111823. PMID: 34828429; PMCID: PMC8618982.

Shelton GD, Minor KM, Thomovsky S, Guo LT, Friedenberg SG, Cullen JN, Mickelson JR. Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. J Vet Intern Med. 2022 Jan;36(1):279-284. doi: 10.1111/jvim.16330. Epub 2021 Dec 2. PMID: 34854126; PMCID: PMC8783360.

Disclaimer

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