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 LARGE1 gene, which leads to abnormal function of the heart, brain, and skeletal muscles.

Gene name

LARGE

Inheritance

Autosomal recessive

Signs and symptoms

Puppies will exhibit clinical signs such as poor suckling response, and smaller stature with a bow-legged stance. They may present with poor weight gain, weakness, difficulty walking, and difficulty swallowing and breathing. Even though this gene is thought to play a role in the brain, no neurological deficits are noted.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Muscle biopsies may be indicated. 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. change in heart rhythm a 24-hour ambulatory ECG monitor (Holter) may be required to find the abnormality. Genetic testing can determine if there is a mutation present.

Breeds at higher risk

Citations

Shelton GD, Minor KM, Guo LT, Friedenberg SG, Cullen JN, Hord JM, Venzke D, Anderson ME, Devereaux M, Prouty SJ, Handelman C, Campbell KP, Mickelson JR. Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation. Neuromuscul Disord. 2021 Nov;31(11):1169-1178. doi: 10.1016/j.nmd.2021.07.016. Epub 2021 Jul 28. PMID: 34654610; PMCID: PMC8963908.

Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012 Jan 6;335(6064):93-6. doi: 10.1126/science.1214115. PMID: 22223806; PMCID: PMC3702376.

Disclaimer

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