{"id":218538,"date":"2024-09-12T07:23:50","date_gmt":"2024-09-12T05:23:50","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/charcot-marie-tooth-neuropathie-cmt"},"modified":"2024-09-12T07:23:50","modified_gmt":"2024-09-12T05:23:50","slug":"charcot-marie-tooth-neuropathie-cmt","status":"publish","type":"page","link":"https:\/\/labogen.com\/uk\/erbkrankheiten-hund\/charcot-marie-tooth-neuropathie-cmt\/","title":{"rendered":"Charcot-Marie-Tooth Neuropathie (CMT)"},"content":{"rendered":"

Charcot-Marie-Tooth Neuropathy (CMT)<\/h1>

General description<\/strong><\/h4>

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.<\/p>

Breeds<\/span><\/strong><\/h4>

Lancashire Heeler, Miniature Schnauzer<\/p>

Detailed description<\/summary>

Charcot-Marie-Tooth neuropathy (CMT)<\/strong> is a heterogeneous group of inherited peripheral neuropathies<\/strong> affecting the peripheral sensory and motor nerves. CMT is the most common neuromuscular disorder in humans.<\/p><\/details><\/div><\/div>

<\/div><\/div>

Charcot-Marie-Tooth Neuropathy (CMT) - Miniature Schnauzer<\/h4>

In the breed Miniature Schnauzer<\/strong>, a variant in the SBF2 gene (also known as MTMR13 gene) has been found to cause Charcot-Marie-Tooth neuropathy (CMT). Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis<\/strong> 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 \u201ctomacula\u201d) around the axons of peripheral nerves and areas of segmental demyelination. The described variant has not been found in other breeds than Miniature Schnauzers. <\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8538<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>2 years<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>SBF2<\/td><\/tr>
Mutation<\/strong><\/td>C-A<\/td><\/tr>
Literature<\/strong><\/td>OMIA:002284-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Charcot-Marie-Tooth Neuropathy (CMT) - Lancashire Heeler<\/h4>

In the breed Lancashire Heeler<\/strong>, a genetic variant of the ITPR3 gene has been found to be associated with CMT. Due to a severe developmental enamel defect, affected dogs show features of amelogenesis imperfecta, including severe yellow to brown discoloration, enamel hypoplasia and abrasion leading to dentin exposure<\/strong>.

The second common symptom of the disease is a subclinical peripheral neuropathy<\/strong>. Therefore, affected dogs show normal locomotion and activity levels, but electrodiagnostic examinations emerge neurogenic changes in muscle, especially in muscles distal to elbow and knee joints, consistent with demyelinating neuropathy. <\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8538<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neurological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Gene<\/strong><\/td>ITPR3<\/td><\/tr>
Mutation<\/strong><\/td>nonsense<\/td><\/tr>
Literature<\/strong><\/td>OMIA:002916-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
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