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Autosomal recessive (*inherited) disease characterized by deficiency of arylsulfatase B.
The mutation prevents sugars from being broken down causing an accumulation of cells which results in skeletal deformations.
Requires 2 copies of the gene for an offspring to be affected but only 1 copy of the gene for the
offspring to be a carrier for life and for that dog to continue to give the gene to future offspring.
Diagnosed Carriers however have been known to exhibit dehabilitating symptoms of the disease later in life.
Affects several breeds and is a disease known to Miniature Pinschers and a possible disease in Harlequin Pinschers since the Harlie was bred out of and is still bred to the Miniature Pinscher breed.
Symptoms of MPS VI can be seen as early as 4 weeks of age. Puppies often times have normal appetites and normal puppy psychological behavior but will exhibit weak limbs or the inability to walk or function properly and usually have severe growth retardation. Common signs of the disease are Dwarfism, Bone Disease, Deformity of Facial Structure, Eye Cloudiness & Degenerative Joint Disease.
Diagnosis can be confirmed based on a DNA Test Result and Commercial test are available for MPS VI in the Miniature Pinscher breed which is also used to test for MPS VI in Harlequin Pinschers.
Dogs with MPS VI will have a poor quality of life and will most likely require euthanization.
MPS VI is a genetic abnormality and is caused by the mating of affected or carrier animals.
Inbreeding may increase the risk of MPS VI if the gene runs in bloodlines which are untested or bred by irresponsible breeders.
Responsible breeding of ONLY Tested “CLEAR” animals can eliminate the possibility of MPS VI in offspring and eventually the Breeds which it affects.
PRIMARY LENS LUXATION
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A recognized recessive gene (*inherited) disease affecting the eyes of many breeds of dogs including the Rat Terrier and potentially the Harlequin Pinscher since the Harlies was bred out of the Rat Terrier breed. The condition may also be acquired. An acquired cause of PLL can not be excluded in some cases by DNA testing.
PLL is a is a painful widespread multi-breed issue associated with the disintegration of the zonule fibers which hold the lens in place. Once the lens luxates or moves from it’s normal position the animal usually experiences the painful secondary Glaucoma occurrence and eventual blindness.
PLL is bilateral and both eyes will be affected even though time may elapse between eyes showing symptoms.
Incidence of PLL is very high in some breeds and breeders are highly recommended to test and eliminate affected animals while working toward eliminating carriers as well. For this to be an effective method of eliminating PLL however every breeder knowingly breeding “Carriers” MUST be a caring responsible breeder and realize they ultimately are responsible for what they produce and would need to take both moral and financial responsibility for offspring produced by them which suffer the consequences of their ‘knowingly’ breeding carrier adults. Test confirm up to 20% of carriers also have been known to suffer with PLL blindness.
The Rat Terrier and even the Harlequin Pinscher (*though low in numbers), in this authors opinion, have sufficient “Clear” tested and even potentially “Clear Untested” breeding stock making it irresponsible for any breeder to knowingly breed known PLL “Affected or Carrier” animals.
There are 3 categories of PLL Testing:
Does not have the gene – will not develop PLL due to mutation – Can not pass the mutation gene to offspring.
Has ONE copy of the PLL mutation and ONE copy of the normal/wild gene. Carriers have a very low risk of developing PLL (*up to 20%). Carriers have a 50/50 chance of passing the carrier gene on to their offspring. Carriers bred to another carrier can produce ‘affected’ offspring
Has TWO copies of the gene – will always pass along one gene to the offspring making every puppy a minimum of ‘carrier’ status. Known PLL Affected dogs should never be bred.
An autosomal inherited recessive disease that is characterized by high concentrations of the amino acid
cystine in the urine leading to the formation of cystine stones.
There is a test for Cystinuria so only CLEAR tested dogs should be used for breeding.
Our adult breeding dogs have been tested and found clear of the Cystinuria gene