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Alpha Fuscidosis is a severe metabolic disease that occurs in the English Springer Spaniel and Welsh Springer Spaniel, causing a loss of physical and mental abilities.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.379_392del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Alpha Fuscidosis is a severe metabolic disease that occurs in the English Springer Spaniel and Welsh Springer Spaniel, causing a loss of physical and mental abilities. The disease is caused by a recessive mutation to the gene FUCA1.
Caractéristiques cliniques
Affected puppies appear normal until the age of approximately 4 to 6 months, when behavioral issues become apparent. Symptoms include progressive ataxia (loss of physical coordination), difficulty swallowing, a hoarse voice, loss of learned behaviour, change in temperament, muscle wasting, and impaired vision. The disease is progressive, and typically requires euthanasia on humane grounds by the age of 4 years.
Bone marrow transplantation has been noted to slow the progress of symptoms and decrease their severity if performed at an early age.
Additional Information
Références
Pubmed ID: 8730282
Year published: 1996
Omia ID: 396
Omia variant ID: 461