Polyneuropathy (LPN1)
Kodas: H379
Short description
A hereditary vorm of polyneuropathy (PN) is a disorder seen in Leonbergers and Saint Bernards.
General information
A hereditary vorm of polyneuropathy (PN) is a disorder seen in Leonbergers and Saint Bernards. It affects the peripheral nerves and is similar to Charcot-Marie-Tooth (CMT) disease in humans. This severe, progressive condition usually starts in young dogs and leads to reduced exercise tolerance, gait problems, muscle loss in the hind limbs, and sometimes noisy or labored breathing due to malfunction of the nervous system. This form of PN is caused by a recessive mutation in the ARHGEF10 gene.
Specifications
| Breeds | |
|---|---|
| Gene | ARHGEF10 |
| Chromosome | 16 |
| Mutation | c.1955_1958+6delCACGGTGAGC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | LPN1; ILPN |
Clinical features
Affected dogs often show general weakness, low muscle tone, and muscle loss, especially in the back legs. They may walk with a high-stepping gait, have reduced or absent tendon reflexes, and in some cases develop noisy breathing due to laryngeal nerve involvement leading to laryngeal paralysis. Signs can appear at any age between 1 and 11 years.
References
Pubmed ID: 25275565
Year published: 2014
Omia ID: 1917
Omia variant ID:
Turnaround information
- 10 working days