Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans. In dogs, CMT-like diseases occur naturally as it was described in many different breeds. In the breed Miniature Schnauzer, a variant in the SBF2 gene has been found to cause Charcot-Marie-Tooth neuropathy (CMT). A mutation in this gene is responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. Affected dogs present clinical signs of laryngeal paralysis or megaoesophagus. Most of them show regurgitations caused by megaoesophagus and inspiratory dyspnoea caused by laryngeal paralysis. Age of onset and clinical presentation is less than 2 years. In the previously described cases, affected dogs have been alive more than 3 years following diagnosis which indicates a long survival rate.
Inheritance: autosomal recessive - read more
Mutation: SBF2 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.