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An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
An inherited polyneuropathy (PN) observed in Leonberger and Saint Bernard dogs has clinical similarities to a group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterised by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea.
This variant of the disorder is caused by a recessive mutation to the gene ARHGEF10.
Caratteristiche cliniche
This disorder is characterised by generalized weakness, hypotonia, and muscle atrophy secondary to denervation, particularly of the pelvic limbs. Affected dogs frequently present with a high-stepping pelvic limb gait (pseudo-hypermetria of the hock), decreased or absent tendon reflexes, and changes associated with degeneration of the recurrent laryngeal nerve, including inspiratory stridor resulting from laryngeal paralysis. The age-of-onset of clinical signs can vary from 1 to 11 years.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 25275565
Omia ID: 1917