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Polyneuropathy is the name used to refer to a broad category of neuromuscular diseases that cause muscle weakness and loss of sensation.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Polyneuropathy is the name used to refer to a broad category of neuromuscular diseases that cause muscle weakness and loss of sensation. This particular variant of the disorder, also known as Charcot-Marie-Tooth (CMT) type 4B2, is caused by a recessive mutation to the SET binding factor 2 gene (SBF2). It has been observed in the Miniature Schnauzer.
Clinical features
Affected dogs present within the first few years of life with symptoms such as exercise intolerance, difficulty breathing, a hoarse voice, vomiting and aspiration pneumonia (lung infections caused by inhaling food or liquid).
Additional information
References
Pubmed ID: 31772832
Omia ID: 2284