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Dog DNA testing illustration

Fucosidosis

Code: H736

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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.

General information

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.

Specifications

Breeds

Welsh Springer Spaniel, English Springer Spaniel

Gene

FUCA1

Chromosome

2

Mutation

c.379_392del

Organ

Nervous System

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Clinical features

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.

References

Pubmed ID: 8730282

Year published: 1996

Omia ID: 396

Omia variant ID:

Turnaround information

  • 15 working days