Centronuclear Myopathy (Labrador Retriever)
Muscle/Neurological • HACD1 • Recessive
Summary
Centronuclear myopathy is an inherited muscle disorder found in Labrador Retrievers and caused by a mutation in the HACD1 gene. The condition is passed down in an autosomal recessive manner, meaning a puppy must inherit the mutation from both parents to be affected. The disorder interferes with normal muscle tone and control, leading to weakness and mobility challenges.
Symptoms
Signs of centronuclear myopathy usually appear between 2 and 5 months of age. Puppies may show an awkward gait, reduced muscle strength, and intolerance to exercise. The disease is progressive through puppyhood, but it tends to stabilise once the dog reaches maturity. This means that while affected dogs may have lifelong weakness, their condition generally does not continue to worsen after growth is complete.
Care
There is no cure for centronuclear myopathy, but supportive care can help dogs live comfortably. Management may include physical therapy, weight control, and the use of supportive devices to improve stability. At home, non-slip surfaces and ramps can make it easier for dogs to get around safely. With attentive care, many affected dogs go on to live happy and fulfilling lives.
Citations
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.
Review
25/08/2025 by Dr Robyn Bird
Breed
Labrador retriever