Myotubular myopathy in humans and dogs causes a male infant to be born with muscle weakness which includes difficulty breathing, leading to death in infancy. This type of myopathy only affects the muscles and does not have any impact on intelligence.
Dr. Ana Buj-Bello led a team of researchers in France (Genethon/Inserm) along with teams at the University of Washington and Harvard Medical School, have developed what could be a treatment/cure for this genetic defect which they have applied to dogs.
The team has developed and manufactured an adeno-associated virus (AAV) that works on a cellular level and gives the dog a normal copy of the MTM1 gene that travels to the entire body. The treatment is easy to administer, given by an intravenous injection and restores long-term muscular strength.
Myotubular myopathy is often found in Labrador Retrievers and Rottweilers. The puppies may appear normal at birth but by 7 – 19 weeks they develop muscle weakness, decreased muscle mass, a hoarse bark and have difficulty eating. The puppies are usually smaller at birth, walk with a short, choppy gait, often falling over. Eventually the puppy cannot stand or even hold their head up. Dogs affected are typically euthanized by six months of age. Labrador and Rottweiler mixes are also affected.
Dr. Ana Buj-Bello’s work may be a life-saver for dogs and eventually people as well. Everyone who has a Labrador or Labrador mix or a Rottweiler, and considers breeding their dog should talk to their veterinarian about having their dog genetically tested to see if they are a carrier of this genetic defect. You can order or inquire about a test from: https://www.vgl.ucdavis.edu/services/dog/CNMLabrador.php
2 thoughts on “Myotubular myopathy in humans and dogs, now there is hope!”
Fascinating Susan! I had read about using viruses to deliver genetic fixes- that is so amazing! Thanks for all of your posts!
You are quite welcomed! I try to keep up on the latest.