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H696

Warburg Micro Syndrome, type 1 (WARBM1) is a form of polyneuropathy, a severe degenerative nerve condition that causes vision problems, an altered voice, and lack of coordination.

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

Warburg Micro Syndrome, type 1 (WARBM1) is a form of polyneuropathy, a severe degenerative nerve condition that causes vision problems, an altered voice, and lack of coordination. The onset starts at about four months of age, and affected dogs typically need to be euthanized on humane grounds within the first year. The disorder is caused by a recessive mutation to the gene RAB3GAP1, and is found in the Alaskan Husky (this test), and also the Black Russian Terrier and Rottweiler.

Caratteristiche cliniche

Onset of WARBM1 starts at 4 to 5 months of age with visual problems. Later, affected dogs experience paralysis of the larynx (resulting in an altered voice and vomiting), progressing to severe ataxia (loss of coordination) with an abnormal gait. Other symptoms include micropthalmia (abnormally small eyeballs), strabismus (lazy eyes), and cataracts .

Informazioni aggiuntive

Riferimenti

Pubmed ID: 26596647

Omia ID: 1970

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