Congenital myasthenic syndromes (CMSs) are genetically heterogeneous inherited diseases caused by abnormal signal transmission at the neuromuscular junction. Clinical signs include reduced activity, weakness, difficulties in taking and swallowing food, abnormal postures and locomotion. Diagnosis is challenging due to variable clinical expression, absence of specific histological anomalies and electromyographic responses. So far, only identifying causing genetic variants help to confirm the CMS. A mutation in the COLQ gene was associated with CMS in Sphynx and Devon Rex cats.
Inheritance: autosomal recessive - read more
Mutation: COLQ gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.