Centronuclear Myopathy (CNM Dog)
Centronuclear Myopathy (CNM) is a hereditary muscle disease in Labrador Retrievers. The disease leads to muscle degeneration, uneven gait and a lack of patellar reflex.
The inheritance is autosomal recessive.
Synonym: Labrador Retriever Myopathy (LRM), hereditary myopathy of labrador retrievers (HMLR).
Genetic Test: available in Shop
Symptoms
- General weakness
- Premature fatigue
- Unsteady gait
- Absence of patellar reflex
- Muscle atrophy
General Information
- Centronuclear Myopathy (CNM) is a hereditary muscle disease in Labrador Retrievers.
- The first symptoms appear from the 6th month onwards.
- Affected animals have health problems that severely affect their quality of life.
Breeds affected
Labrador Retriever
Test Information
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs when both alleles of the gene are affected by the mutation (cnm/cnm). Dogs that have only one allele with the causative mutation (N/cnm) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no variants for CNM and thus cannot pass it on to offspring.
N/cnm = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.
cnm/cnm = affected
The variation will be passed on to 100% to the offspring.
Recommendations
- Carrier animals can be bred to normal animals (N/cnm x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/cnm x N/cnm) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (cnm/cnm) should be excluded from breeding.
Literature
Pelé, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: 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 14:1417-27, 2005. Pubmed reference: 15829503. Doi: 10.1093/hmg/ddi151.
Maurer, M., Mary, J., Guillaud, L., Fender, M., Pelé, M., Bilzer, T., Olby, N., Penderis, J., Shelton, G.D., Panthier, J.J., Thibaud, J.L., Barthélémy, I., Aubin-Houzelstein, G., Blot, S., Hitte, C., Tiret, L.: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 7:e46408, 2012. Pubmed reference: 23071563. Doi: 10.1371/journal.pone.0046408.
Further information is available at: Online Mendelian Inheritance in Animals.