Charcot-Marie-Tooth Neuropathy (CMT)

Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by... more
Disease
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.
Breed
Miniature Schnauzer
Heredity
autosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
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