Congenital pseudomyotonia(PMT)
Also known as: SERCA1-deficiency · Brody-like syndrome in dogs · Pseudomyotonie · ATP2A1-Myopathie
Overview
What it is
Congenital pseudomyotonia, also known as paradoxical pseudomyotonia, is an inherited muscle disorder caused by a mutation in the SLC7A10 gene. This genetic defect affects the muscular system by preventing the muscles from relaxing normally after they contract. Unlike the bovine form of the disease, the canine version specifically impairs the chemical pathways needed for normal muscle relaxation.
How it presents
Symptoms typically become visible during puppyhood, especially during periods of excitement or physical exertion. Owners will usually notice sudden muscle stiffness, a temporary 'freezing' of movement, or a stiff, stilted gait.
Treatment
While there is no cure, this lifelong condition can be managed through medication, stress reduction, and controlled exercise. Lifetime management and veterinary care typically cost between 1,000 and 4,000 EUR.
How it's tested
Pseudomyotonia (PMT) DNA-Test(PMT)
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im ATP2A1-Gen bei betroffenen Hunderassen wie dem Lagotto Romagnolo.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Congenital pseudomyotonia?
Congenital pseudomyotonia, also known as paradoxical pseudomyotonia, is an inherited muscle disorder caused by a mutation in the SLC7A10 gene. This genetic defect affects the muscular system by preventing the muscles from relaxing normally after they contract. Unlike the bovine form of the disease, the canine version specifically impairs the chemical pathways needed for normal muscle relaxation.
How is Congenital pseudomyotonia tested?
Tests currently in our database: Pseudomyotonia (PMT) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.