Siberian Husky Health Panel

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Siberian Husky Shaking Puppy Syndrome, Type 1

Shaking puppy syndrome refers to tremors in puppies that are caused by neurologic disease rather than a metabolic problem (like low blood sugar). Shaking puppy syndrome is not a single disorder but rather a general name given to a variety of disorders that cause similar clinical signs. Together with the University of California Davis, we have recently identified a genetic variant associated with one form of shaking puppy syndrome in Siberian Huskies, now termed Shaking Puppy Syndrome, Type 1 (SPS1).  This is a separate condition from Hypomyelination in Weimaraners (HYM).

Signs of SPS1 first become apparent at about 2 weeks of age when affected puppies begin to ambulate.  Clinical signs are characterized by difficulty walking, tremors, and incoordination; these signs often resolve within a few weeks.  Unfortunately, unlike most forms of shaking puppy syndrome in dogs, all SPS1 affected dogs evaluated to date experienced sudden death prior to 2 years of age. 

We now offer genetic testing for SPS1, which allows owners to determine their dog’s status for this variant (clear, carrier, or affected/susceptible) in order to guide future breeding decisions and to more definitively diagnose affected dogs. Based on current data, SPS1 is most likely inherited in a fully penetrant autosomal recessive manner. Autosomal recessive means that two copies of the mutation are required to show signs of disease; fully penetrant means that all genetically affected/susceptible dogs will show obvious clinical signs in their lifetime.

Siberian Husky Polyneuropathy, Type 1

Multiple types of polyneuropathies have been described in Siberian Husky dogs. Together with the University of California Davis, we have recently identified a genetic variant associated with one form of polyneuropathy, now termed Siberian Husky Polyneuropathy, Type 1 (SHPN1).

SHPN1 often shows a juvenile onset (before 2 years of age). Affected may dog suffer from slowly worsening gait abnormalities (ataxia) and muscle weakness and atrophy. As the disease progresses, affected dogs may become increasingly immobile and develop muscle tremors and/or contractures.  Unlike many other forms of polyneuropathy, SHPN1 affected dogs do not appear to develop laryngeal paralysis.

We now offer genetic testing for SHPN1, which allows owners to determine their dog’s status for this variant (clear, carrier, or affected/susceptible) in order to guide future breeding decisions and to more definitively diagnose affected dogs. Based on current data, SHPN1 is most likely inherited in a partially penetrant autosomal recessive manner. Autosomal recessive means that two copies of the mutation are required to show signs of disease; partially penetrant means that not all genetically affected/susceptible dogs will show obvious clinical signs in their lifetime.

Hyperuricosuria

Urate stones in Siberian Huskies are primarily caused by a mutation in the uric acid transporter gene, SLC2A9. This mutation increases uric acid concentrations in the urine (hyperuricosuria, HUU), resulting in risk for urate urinary stones. We offer a genetic test to screen for the HUU mutation. HUU is inherited as a fully penetrant autosomal recessive trait. Autosomal recessive means that two copies of the mutation are required for HUU to be present; fully penetrant means that all genetically affected/susceptible dogs will have HUU. However, not all dogs with HUU go on to form urate stones. Male dogs affected with HUU are at greater risk for forming urate stones than affected female dogs. Common signs of urinary stones include blood in the urine, straining to urinate, frequent urination, and urgency with urination. The HUU test can be performed alone or as a "combo test" with SPS1 and/or SHPN1 testing. More information on urate stones can be found through the Minnesota Urolith Center at Canine Urate.