WARNING! Important health information for Clumber Spaniels

Make sure you KNOW the genetic status of your new Clumber! In November 2005, it was proven that a disease that had been reported by various names and various symptoms and degrees of symptoms was in fact an inherited disorder that has been reported in the Clumber and Sussex Spaniel breeds.

THERE IS A TEST – SO THERE IS NO EXCUSE!

PDP1 (Pyruvate Dehydrogenase Phosphatase 1) deficiency in Clumbers has been demonstrated (Nov 2005) to be a simple autosomal recessive genetic defect. Originally PDP1def was referred to as Pyruvate Dehydrogenase PDH Deficiency.

While carriers do not exhibit the disease, carrier to carrier should not be mated together as 25% of the resulting pups can be expected to have the associated debilitating exercise intolerance.
Pups from parents who are both clear can be considered clear themselves.
Pups from a parent that is a carrier must be tested to establish their status before breeding from them.
The research paper is
Title: Identification of a Canine Model of Pyruvate Dehydrogenase Phosphatase 1 Deficiency
Authors: Jessie M Cameron, PhD; Mary C Maj, PhD; Valeriy Levandovskiy; Neviana MacKay, MSc; G Diane Shelton, DVM, PhD; Brian H Robinson, PhD
scheduled for publication in “Molecular Genetics and Metabolism” in about December 2006.

Australia test labs:

WHAT IS PDP1 DEFICIENCY?

The gene for making the pyruvate dehydrongenase is very much shorter than it should be, which means the biochemical pathway is markedly affected as PDH is not correctly manufactured in the affect dog.

A dog WILL ONLY be affected if it carries TWO copies of the defective gene, which can ONLY happen if a carrier is mated to a carrier or an affected dog – hence the CSLV are encouraging all members to screen or establish the PDP1 status of any dog they breed from.

The defect may be obvious at birth, but it also may not express itself to any clinical degree until the puppy is 8 weeks or older.

Typically an affected dog will show marked exercise intolerance typical of a weak heart of defective hindquarters or muscles. There is no cure although mild cases can be managed for sometime.

This is a disease conscientous breeders can eliminate now there is a simple genetic test and it is the policy of the club and so its members to eradicate the gene from the breeding population within a couple of generations. As a buyer you can help to do this by demanding to know the PDP1 status of both parents of your new Clumber.

 

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