Charcot-Marie-Tooth Neuropathie (CMT)
Charcot-Marie-Tooth Neuropathy (CMT)
General description
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.
Breeds
Miniature Schnauzer
Order details
| Test number | 8538 |
| Abbreviation | CMT |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 years |
| Causality | causally |
| Gene | SBF2 |
| Mutation | C-A |
| Literature | OMIA:002284-9615 |
Detailed description
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.
