Charcot-Marie-Tooth Neuropathie (CMT)
Charcot-Marie-Tooth Neuropathy (CMT)
General description
Affected dogs of the breed Miniature Schnauzer suffer from a mega-oesophagus with frequent regurgitation, as well as breathing difficulties due to laryngeal paralysis. In the Lancashire Heeler breed, CMT is associated with features of amelogenesis imperfecta and subclinical peripheral neuropathy.
Breeds
Lancashire Heeler, 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 | 7-14 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
Charcot-Marie-Tooth neuropathy (CMT) is a heterogeneous group of inherited peripheral neuropathies affecting the peripheral sensory and motor nerves. CMT is the most common neuromuscular disorder in humans.
