Disease overview

Myopathy is a disorder of the skeletal muscle. This form is inherited by Labrador Retrievers due to a mutation in a protein-producing gene thought to be involved in muscle stability. As a result, muscle cells do not form correctly, and during growth the muscles malfunction and get damaged.

Gene name

HACD1

Inheritance

Autosomal recessive

Signs and symptoms

This is a rapidly progressive muscle myopathy that presents as early as 6 weeks of age and as late as 5 months of age. Clinical signs include weakness, gait abnormalities, muscle wasting, lack of muscle control, and exercise intolerance. This is a severe disease.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Muscle biopsy may be indicated for a definitive 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

Citations

Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet. 2005 Jun 1;14(11):1417-27. doi: 10.1093/hmg/ddi151. Epub 2005 Apr 13. Erratum in: Hum Mol Genet. 2005 Jul 1;14(13):1905-6. PMID: 15829503.

Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, Panthier JJ. The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. Hum Genet. 2003 Sep;113(4):297-306. doi: 10.1007/s00439-003-0984-7. Epub 2003 Jul 23. PMID: 12884002.

Disclaimer

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