Congenital myasthenic syndrome, COLQ-related(CMS)
Congenital Myasthenic Syndrome · COLQ-CMS · Kongenitales Myasthenisches Syndrom · Endplate Acetylcholinesterase Deficiency · EAD · Myasthenic syndrome, congenital, COLQ-related
What it is
This is an inherited neuromuscular disorder where the communication between nerves and muscles is disrupted. It is caused by a deficiency in an essential enzyme at the junction where nerves meet muscles, preventing normal chemical signaling. Without this signal transmission, the muscles cannot contract properly and tire very quickly.
How it presents
Symptoms typically appear in puppies between 4 and 12 weeks of age. Owners will notice severe muscle weakness, a stiff or awkward gait, and rapid collapse during exercise, though the puppy may temporarily recover after a short rest.
Treatment
While there is no cure, the condition can be managed lifelong with daily medications to improve muscle strength. Managing this disease requires ongoing veterinary care and regular check-ups, with lifetime costs typically ranging from €2,000 to €8,000.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.