Myotubular Myopathy 1 (Rottweiler Type)

General Information: Myotubular Myopathy 1 (MTM1) in Rottweilers is an X-linked recessive muscle disease that emerges distinctly between 7 to 13 weeks of age. Initially, affected puppies may appear healthy but soon exhibit significant muscle weakness, reduced muscle mass, and a marked intolerance to exercise. Symptomatic puppies may struggle to stand or maintain head control, and their whiskers could appear bent or crinkled. The condition progresses swiftly, often leading from episodic muscle collapse to a complete inability to stand or lift their heads within just a month of the first symptoms. The disease’s non-painful nature notwithstanding, the rapid degeneration it causes usually leads to early euthanasia of affected dogs by three to four months of age due to poor quality of life.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Myotubular Myopathy 1 (MTM1) (Rottweiler Type) targets mutations in the MTM1 gene and is crucial for identifying carriers and affected pups. In Rottweilers, this condition exhibits an X-linked recessive inheritance pattern, where males are more frequently and severely affected, needing only one copy of the mutated gene from their mothers. Females must inherit two copies, one from each parent, to show symptoms. Testing provides a clear identification of carriers, particularly in females, informing breeding decisions to prevent the disease's transmission. Since male pups have a 50% risk of inheriting the disease from carrier mothers, it is highly recommended not to breed carriers. By avoiding the breeding of known carriers, breeders can help prevent the propagation of this debilitating condition. Female dogs not carrying the mutation are at no increased risk of producing affected offspring.