Congenital Myasthenic Syndrome (CMS), CHAT-related(CMS)
Congenital Myasthenic Syndrome · CHAT-related CMS · Choline Acetyltransferase Deficiency · Kongenitales Myasthenisches Syndrom · CMS-CHAT · Myasthenic syndrome, congenital, CHAT-related
What it is
This is an inherited neuromuscular disorder that disrupts the communication between nerves and muscles. It is caused by a genetic deficiency in an enzyme called choline acetyltransferase (CHAT), which is needed to produce acetylcholine, the chemical messenger that tells muscles to contract. Without enough of this messenger, the muscles cannot function normally.
How it presents
Symptoms typically appear in puppies within the first few weeks of life. Owners will notice extreme muscle weakness, collapse during physical exertion, and dangerous, life-threatening pauses in breathing.
Treatment
While the condition is incurable, some cases can be managed long-term with supportive medications and close monitoring. Lifelong management and intensive veterinary care typically cost between €2,000 and €8,000.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.