Charcot-Marie-Tooth Neuropathy (CMT)
Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by... more
In the breed Miniature Schnauzer, a variant in the SBF2 gene (also known as MTMR13 gene) has been found to cause Charcot-Marie-Tooth neuropathy (CMT), which is the most common neuromuscular disorder in humans. Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis at a young age (< 2 years). In the previously described cases, affected dogs have been alive more than 3 years following diagnosis which indicates a long survival rate. Typical pathological findings are variable thickness of the myelin sheath (so-called tomacula) around the axons of peripheral nerves and areas of segmental demyelination. The described variant has not been found in other breeds than Miniature Schnauzers.
3-5 days after arrival of the sample in the lab