Paroxysmal dyskinesia (PxD) is a type of movement disorder that can affect several breeds, one of which is Norwich Terriers. Affected dogs have periodic muscle cramps or contractions, during which they may appear confused or anxious and/or be unable to stand.
There is currently no known cure or treatment for PxD which, given that episodes can occur daily and last for up to 30 minutes, means that the condition is a significant welfare issue for dogs and their owners.
Searching for genetic clues
The team at the Kennel Club Genetics Centre is conducting research to identify genetic variants that contribute to the risk of Norwich Terriers developing PxD. We aim to use our results to develop tools to better understand and prevent the disorder.
To conduct the investigation, we analyse DNA from cheek swabs from dogs affected by PxD and compare this with DNA from unaffected dogs. We have recently used a method called a genome-wide association study (GWAS), or genome scan, to search for DNA regions that may be involved with the disorder.
Working with Linnaeus
We work closely with Linnaeus in this project. When experts at a Linnaeus veterinary practice diagnose a Norwich Terrier with PxD, they mention our research to the owner to see if they would like to participate. Also, our collaborating veterinary neurologist reviews all the clinical data to confirm cases of PxD. This is an important step because PxD can be confused with other neurological disorders.
Help us help dogs!
One of the most important factors for a successful GWAS is having large numbers of samples. This helps ensure that any genetic differences identified between PxD-affected dogs and healthy controls are statistically relevant and meaningful.
For this reason, we are keen to recruit more Norwich Terriers to take part in our research. So, if you have a Norwich Terrier that has been diagnosed with PxD (any age), or a Norwich Terrier over 6 years old that does not have PxD, then please get in touch if you’d like to help with our study.
Participants receive a DNA collection kit to take cheek swab samples from their dog. In addition, owners of dogs with PxD are asked to provide information about the condition via an online questionnaire. Please click here to see the flyer about this study. For more information or to take part, please email: kcgc-epilepsy@vet.cam.ac.uk
Progress to date
Our preliminary GWAS study has found some variants showing suggestive association with PxD that we have followed up in a collaborative dataset and we plan to publish these findings soon. These findings will need validation in additional PxD-affected dogs and healthy controls and so we are still in need of samples for our study!
Future studies
We plan to move towards a whole genome sequencing approach to investigate this condition in the future to supplement the data and analyses that we have already conducted, funding dependent.
Above photos by Blue Bird – Photography
Below photo by Ruth Corkhill
