Congenital myasthenic syndrome, CHRNE-related(CMS)
Also known as: Congenital Myasthenic Syndrome · Kongenitales Myastheniesyndrom · CHRNE-CMS · Myasthenia gravis (congenital) · Myasthenic syndrome, congenital, CHRNE-related
Overview
What it is
This is an inherited neuromuscular disorder where the communication between nerves and muscles is disrupted. It is caused by a genetic defect that prevents the proper formation of receptors on muscle cells, which are needed to receive chemical signals from nerves. Without these receptors, the muscles cannot contract normally, leading to severe weakness.
How it presents
Symptoms usually become visible in young puppies between 3 and 8 weeks of age. Owners will typically notice extreme muscle weakness, rapid tiring during play, and sudden collapse after even brief physical activity.
Treatment
While there is no cure, the condition requires lifelong medical management to help improve muscle function and support the dog's quality of life. Ongoing veterinary care and supportive medications typically cost between 1,500 and 6,000 EUR.
How it's tested
Kongenitales Myasthenisches Syndrom (CMS) DNA-Test(CMS (CHRNE))
Primary testDNA testEin DNA-Test identifiziert die ursächliche Mutation im CHRNE-Gen, welche für das kongenitale myasthenische Syndrom verantwortlich ist, und ermöglicht den Nachweis von freien, Träger- und betroffenen Hunden.
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 myasthenic syndrome, CHRNE-related?
This is an inherited neuromuscular disorder where the communication between nerves and muscles is disrupted. It is caused by a genetic defect that prevents the proper formation of receptors on muscle cells, which are needed to receive chemical signals from nerves. Without these receptors, the muscles cannot contract normally, leading to severe weakness.
How is Congenital myasthenic syndrome, CHRNE-related tested?
Tests currently in our database: Kongenitales Myasthenisches Syndrom (CMS) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.