View Full Version : New genetic mutation identified: muscular dystrophy in CKCS

12th July 2009, 11:50 AM
This may be another diagnosis for weak limbs and confused with SM or Episodic Falling Syndrome... . People might want to inform their vets including those outside the UK! This was published in the Vet Record in July 11 2009:


We have recently identified the genetic cause of a form of muscular dystrophy in CKCS. The causative mutation is in the dystrophin gene and the X-linked disease is associated with weakness, muscle atrophy and exercise intolerance, detectable from a few months of age. Prominent signs in affected dogs are dysphagia and macroglossia (enlarged tongue). Serum creatine kinase is usually markedly elevated. Male dogs with the mutation clinically affected and female dogs with the mutation are silent carriers.

We are also keen to hear from veterinary surgeons who believe they may have seen an affected dog in their practice, in order to estimate the prevalence of this disease and limit its spread by genetic testing.

Richard J Piercy, Gemma Walmsley, Dept of Veterinary Clinical Sciences, RVC, North Mymms, Hatfield, Herts, AL9 7TA
Email: rpiercy@rvc.ac.uk

12th July 2009, 01:02 PM
Thank you for sharing that Karlin - I have passed it on to my vet, I'm sure she will be very interested.

16th July 2009, 07:37 PM
I have been doing a little digging to find out more about this...

Dogs with muscular dystrophy begin to show clinical signs at about eight weeks of age. Initially they have muscular weakness, exercise intolerance and a stiff gait. Within a few weeks muscle atrophy spreads and becomes apparent. These initial signs are followed by generalized weakness, enlargement of the langue, and difficulty swallowing. An affected puppy or dog has problems moving his tongue, drools excessively, retains food in his mouth, has difficulty breathing, muscle spasms of the neck that last 10 to 30 seconds, and increased exercise intolerance. The dog is able to prehend and chew but drops food during swallowing due to inappropriate tongue movement. Likewise, he is not able to drink normally but has to extend his head and neck to swallow water.

from http://www.gopetsamerica.com/dog-health/canine_x_linked_muscular_dystrophy.aspx

There's a dog in a rescue in Montana with this condition http://www.rollingdogranch.org/dogs/birdie.html

16th July 2009, 08:14 PM
Thanks Nikki for the Link.

You begin to wonder if the Gene could be any where near where the SM Gene or Genes could be.

I do have a vivid imagination.!!!