# Straight Legged GSD's - May Have a New Genetic Disease



## Spiritsmam (Nov 10, 2007)

Hi guys

It has been a while since I have been on the board, sorry. It is with great sadness that I am writing to let those of you know who remember my GSD's that one of my straight legged GSD's died a couple of weeks ago. I had a necropsy performed which has found some very unusual things. 

The necropsy showed that my dog’s spinal cord started to duplicate itself just before it reached the hind legs. The new spinal cord that started to develop did not have normal arrangement of neurons though AND it compressed the more normal cord that was going through the region. The combination likely caused poor nerve transmission to the hind limbs. We believe lack of proper nerve signal to his back legs caused him to develop the muscle atrophy and then subsequently all of the changes in the joints and bones.

We really have no idea why the spinal cord is doing this and there are no similar cases reported in veterinary literature. I am working with Veterinarians at NC State vet school to understand more about this condition, to investigate if a hereditary German Shepherd Dog breed problem can be identified.

I would be most grateful if you could pass the word far and wide. The first part of trying to figure this out is to find out how many dogs with these hindlimb deformities there are. There is a website http://www.straightlegshepherds.org that has photographs and videos that show the problem and provide more information. While we are primarily interested in German Shepherds, I'm interested in hearing about dogs of any breed or mix with similar limb deformities. 
*
Any and all information received will be completely confidential and anonymous - at this stage all we are interested in are numbers and affected breeds.*

my e-mail address is [email protected]


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## onyx'girl (May 18, 2007)

Joanne, so sorry to hear about your loss, I'm afraid to ask which one? 
At least this pups life was lived happily with you, and your compassion. And his loss of life will hopefully help others with the deformity. 
Thank you for sharing this, I'm bookmarking the link.


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## Spiritsmam (Nov 10, 2007)

It was Darwin. Spirit, Eli and Aoibhe are all still going strong.


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## NancyJ (Jun 15, 2003)

Thank you for your compassion and loving these dogs while trying to find a genetic link.


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## carmspack (Feb 2, 2011)

what does OFA say about this . Are there any links or information outside of the Disabled German Shepherds, hindlimb deformity, limb deformity, straight leg shepherds that you provided?
Carmen
Carmspack Working German Shepherd Dogs


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## Spiritsmam (Nov 10, 2007)

As far as we know this is the first time that this problem has been seen, or at least recorded. I know that there are pups like mine that pop up in litters from time to time. A friend who breeds tells me that these pups are typically euthanized as soon as the problem becomes apparent. 

The hope is, that now we have histopathologic evidence, that funding can be obtained to investigate fully and see if this is in fact a genetic disease in GSD's.

I have been looking for information on dogs affected like this since 2006 when I adopted Spirit and have found no other sites/reports, except for hearing about the occasional affected individual or litter.

Joanne


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## Mrs.K (Jul 14, 2009)

It sucks that nobody ever thought about recording the litters where it actually turned up. I bet you that if there was a recording of the litters that you could find a link. Is it possible that they all have a certain linage they are coming from?


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## Spiritsmam (Nov 10, 2007)

We do have pedigrees for a few of the affected dogs, but most we know of were dumped at shelters so have an unknown lineage.


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## Anja1Blue (Feb 27, 2008)

Joanne, I'm so sorry for the loss of Darwin. I remember a number of dogs with this condition posted in the Rescue section, not sure if he was one of them. 

Thank you for all you have done for these special guys - and RIP Darwin, run free - and normal legged - at the Bridge.
_________________________________________
Susan

Anja SchH3 GSD
Conor GSD
Blue BH WH T1 GSD - waiting at the Bridge :angel:


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## RebelGSD (Mar 20, 2008)

I am so sorry for your loss of Darwin. I remember when these dogs first showed up and you took them in. They are so lucky to have someone as dedicated as you.

Was Darwin's death a consequence of the condition?

My dog is in a clinical trial for stem cell treatment for DM. I am wondering whether stem cell teratment would help these dogs too. If it is duplication of the spinal cord and the increased pressure, it might not. If it is damage to the neurons, it might. 

Please give the pups a hug from us.


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## Spiritsmam (Nov 10, 2007)

I had to euthanise Darwin because he suddenly became very aggressive. He almost killed one of my Labs, then a couple of days later attacked me, sending me to the ER. We observed him at the vets fro 24 hours and one minute he's be happy/wagging his tail, the next his eyes glazed over and he would growl/snarl.

Whether or not this is related to the underlying condition we don't knoe. Initially I thought not, but then I hear from another owner of a straight legged shepherd. This dog was also from a litter where many pups were affected - ALL the other affected pups were euthanised before they were 3 because of severe aggression.

Obviously we are just at the beginning of investigating the underlying cause. Folks at the vetschool are excited as this looks like something that has never before been reported, likely a motor neuron disease. It now becomes even more important to find out how many affected dogs there are, if they are still popping up in litters (I typically start to hear of dogs around May/June time) and if we can get blood samples for research.

I'm in the process of putting together an e-mail that a couple of us with these pups are going to send to every rescue and group we can think of (>1000!).


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## Mrs.K (Jul 14, 2009)

To be honest, and I may get flamed for that, but euthanasia is the best thing that could have ever happened to them. I don't know if I am the only one that feels that way, but I wouldn't be surprised if the aggression came from pain. It hurts to see them walk. I've tried watching the movies and I couldn't because it was so painful to watch them. 

I wonder at what cost those dogs are being kept alive. I understand that research is important and that you have to learn of what is going on, but at what cost. If I had a dog, that was straightlegged and couldn't walk on his own because of the condition, I would release him. 

Looking at those X-Rays... I don't want to know the kind of pain they must be in. Even though some pain-guru said they are not... I don't believe it. A lot of dogs that have severe HD don't show any pain either, yet they are in pain and suffer and anyone would say to either put that dog to sleep or give him a surgery, yet straightlegged dogs, that have a condition that goes beyond comprehension are being kept alive and everybody is happy. 

At some point you have to draw a line...


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## carmspack (Feb 2, 2011)

someone has been trying to contact you and I am told there is no response . You can PM me and I will give you the contact information.

Would you be interested in speaking with a dear friend of mine who is a Senior Research Scientist specializing in genetics . We were discussing these straight legged GSD because I thought I had seen it all, obviously not . 
Here we are after market at a "family diner" for lunch getting excited about Prader Willi syndrome (human pica, insatiable appetitie) and chromosome 15 , and how this is due to a deletion expressed on the paternal chromosome . When you have a deletion of the same segment expressed on the maternal chromosome you have Angelman Syndrome where the subject has a frozen "comic" or "clown" face. 
Discussion went on for a long time - as it often does . 

I know for a fact that he would be dying to get some biological material to investigate this disorder.

Carmen
Carmspack Working German Shepherd Dogs


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## Zoeys mom (Jan 23, 2010)

I don't think keeping these specimens alive for research is necessarily cruel when in the long run it could lead to figuring out which gene or combination of gene mutations is responsible for the disorder. It could potentially help eliminate the disease all together in future litters if the markers for these genes could be identified in testing before a breeding occurred like with other disorders. If it weren't for studies like these we wouldn't be able to test for the disorders we can now. However, if a genetic link doesn't pan out than yes euthanasia obviously is the kindest thing to do but you have to find out


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## Spiritsmam (Nov 10, 2007)

In addition to Darwin I have 3 affected GSD's. They are not "research subjects" or "specimens", they are beloved family pets. The oldest, Spirit, is 8 years old and is not painful. I know this because in addition to having several specialists examine my dogs and tell me so, I adopt/rescue special needs dogs and have managed many dogs that ARE painful when I get them. 

All my dogs run like the wind, climb steps, even jump, things they would not do if they were painful. On physical exam you can flex and extend their hindlimbs at their hips and get no response - again, if they were painful you would get a reaction.

That Darwin had to be euthanized is upsetting. He was a great dog until something unknown happened. My hope is that we can learn from his passing, and if this is a genetic disease find a way to stop affected puppies being born.


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## Mrs.K (Jul 14, 2009)

Spiritsmam said:


> In addition to Darwin I have 3 affected GSD's. They are not "research subjects" or "specimens", they are beloved family pets. The oldest, Spirit, is 8 years old and is not painful. I know this because in addition to having several specialists examine my dogs and tell me so, I adopt/rescue special needs dogs and have managed many dogs that ARE painful when I get them.
> 
> All my dogs run like the wind, climb steps, even jump, things they would not do if they were painful. On physical exam you can flex and extend their hindlimbs at their hips and get no response - again, if they were painful you would get a reaction.
> 
> That Darwin had to be euthanized is upsetting. He was a great dog until something unknown happened. My hope is that we can learn from his passing, and if this is a genetic disease find a way to stop affected puppies being born.


Not trying to argue with you about pain and I do believe that they are beloved pets but keep in mind that even dogs with the most severe HD will jump hurdles, run up stairs, not showing any pain at all but once you see the X-rays you are in shock&awe because you had no idea. 

Some dogs won't show any pain at all but that doesn't mean that they are not in pain. It's just like with us humans, some suck it up and soldier on, others are whimps and cry because somebody stepped on their toes. 

If I had a dog like that, I don't know if I would or wouldn't put him down, to be honest.


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## RebelGSD (Mar 20, 2008)

Mrs.K said:


> To be honest, and I may get flamed for that, but euthanasia is the best thing that could have ever happened to them. I don't know if I am the only one that feels that way, but I wouldn't be surprised if the aggression came from pain. It hurts to see them walk. I've tried watching the movies and I couldn't because it was so painful to watch them.
> 
> I wonder at what cost those dogs are being kept alive. I understand that research is important and that you have to learn of what is going on, but at what cost. If I had a dog, that was straightlegged and couldn't walk on his own because of the condition, I would release him.
> 
> ...


Joanne is a very responsible owner and has excellent contacts at the vet school where her dogs get veterinary care. Implying that someone who never met the dogs can better judge whether the dogs are in pain than Joanne is really inappropriate. Dogs that look "different" can have a quality life, same as people. And Joanne's dogs definitely want to live.

I am so sorry about Darwin, Joanne. It is possible that at some point the disease reaches the brain.

Was there any discussion about fungal disease at some point?


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## Mrs.K (Jul 14, 2009)

RebelGSD said:


> Joanne is a very responsible owner and has excellent contacts at the vet school where her dogs get veterinary care. Implying that someone who never met the dogs can better judge whether the dogs are in pain than Joanne is really inappropriate. Dogs that look "different" can have a quality life, same as people. And Joanne's dogs definitely want to live.
> 
> I am so sorry about Darwin, Joanne. It is possible that at some point the disease reaches the brain.
> 
> Was there any discussion about fungal disease at some point?



I have never said that she is irresponsible and I know I will get flamed for my opinion but looking at the x-rays I simply cannot believe that they are not in pain. I am not arguing that they don't have a great life and that she isn't doing everything in her power to give them a great life because she does.


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## GSDGenes (Mar 9, 2006)

I would love to know more about this. At what age does the problem show up?
How many affected animals do you know of?
Do you have pedigree information on affected animals? 
Did these affected animals come from one particular individual or bloodline?

I read on your website that some of the affected dogs were littermates. This suggests the possibility that the problems may have been due to some kind of toxin, infection, or other environmental influence on the pups while they were still fetuses gestating within their mother. Were the parents ever bred together prior to this litter or after this litter? Lack of problems with prior or subsequent litters out of the same parents also indicate something that happened during gestation causing the problem.

A mutation can happen at any time, but most mutations are dominant and only one individual in a litter is affected. Most mutations are lethal, causing multiple defects & the affected pup is born dead or dies soon after birth.

A deviation from normal in a newborn pup will change the development of the bones & joints. I once had a three-legged bitch who lost her right rear leg before she was completely born, she came breech, her mother was a first-time mother and accidentally severed the puppy's right hind leg in an attempt to either chew the cord or pull the puppy out. The leg was bitten clean through in two places and was attached by only a shred of skin so before that puppy was even 24 hours old, my best friend at the time who was a veterinarian & I amputated the leg at the proper mid-femur level. Antibiotics were given to prevent infection and the puppy thrived. I kept her and as an adult dog, the aoppearance of her rear was quite different from that of a normal four legged GSD. Her pelvis was somewhat tilted so that her left rear leg was structurally situated almost to the center of her body. Her left thigh & hind leg was tremendously muscled. She had no trouble keeping up with my other dogs, in fact she was one of the more dominant dogs I had at the time. She was able to run and play as well as any of my other dogs. She was able to pull as hard on the leash as any of the other dogs. She also could easily jump into the top bunk of a stacked pair of Varikennels, jump into the back of the van, clear a standard 42" chain link fence with ease and escape from a standard 6 ft.high kennel run.


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## carmspack (Feb 2, 2011)

allowing research to be done would require nothing more than some DNA --


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## mkinttrim (Jul 3, 2011)

*Any other info?*

I know this is an old thread but wondered if there has been any other info on straight leg syndrome. A german shepherd rescue here in Alaska has 2 dogs with this disease, They are removing a leg of one on 10/16/18, there other dog has it in 2 rear legs and will probably be put down. Any info would be appreciated and can be sent to me or to Arctic German Shepherd Rescue in Fairbank, Alaska


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## middleofnowhere (Dec 20, 2000)

The website seems to operate weirdly. Any clues on that?


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## Sunsilver (Apr 8, 2014)

I couldn't get it to open at all!

I did find this page, though: https://lessonsfromaparalyzeddog.com/3-little-known-conditions-keeps-puppies-walking/

There is also a video of a straight-legged dog running and playing:


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