Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts

Saturday, April 3, 2010

More on DSLD, Degenerative Suspensory Ligament Desmitis

After my last post on DSLD I got an email telling me the reference from Dr Deb Bennett was written before the latest study. That email went on to state that no horse with dropped fetlocks should ever be bred. The inference was because of the information in the study I had referenced.

While I appreciate someone trying to be sure I understand the information, I can't help but be frustrated because it is clear the person has not really done her homework. The scientific evidence does not conclude nor support that all horses with dropped fetlocks should be excluded from the breeding pool.

It's important when reading things on the internet, even if those are scientific studies published in medical journals, to be sure of all the facts. Everyone makes mistakes and that includes those doing studies. If you look closely at the most current study by BMD Veterinary Research you'll see it does indeed support my position about mistakes although that may not be obvious if you didn't verify the information you read with the references indexed.

The current study by BMC Veterinary Research does indeed state in the section "Abstract" under the subheading " Background" that The pathogenesis remains unclear, though the disease appears to run in families.

Then under the section labelled "Background" with supportive references it states Degenerative suspensory ligament desmitis (DSLD) is a heritable, debilitating syndrome recognized in Peruvian Pasos, Peruvian Paso crosses, Arabians, American Saddlebreds, American Quarter Horses, Thoroughbreds, and some European breeds [12].

There is a big difference between "appears to be" and "is heritable." The study contradicts itself on the subject. So which is it?

If you read the referenced work that is supposed to support the statement that the disease is heritable you will find there is no stated or implied proof that the disease is heritable in the stated reference. Reference 12 is the study by Janice Young done in 1993.

That study states under the heading " Prognosis" The question of heredity must be answered as there are several sire/son, dam/daughter and full sister combinations of affected individuals. Then again under the heading "Summary" it states The question of heredity needs to be addressed, as these horses are only returning to breeding soundness rather than to previous athletic ability.

While the Young study suggests this disease could be hereditary, it clearly states the possibility needs to be investigated. That's a far cry from proving the disease is hereditary. Dr Deb Bennett understood this when she made her statement she " would not remove a horse from a breeding population for dropped fetlocks alone."

Since the most current study has totally misrepresented the heritability issue, many believe that it is a proven scientific fact that DSLD is heritable when in reality that is not the case. There have been NO studies, referenced in any of the works, published either on the internet or in print, that have proved if indeed the disease is heritable or not. Until that is done this issue will remain nothing more than a question.

Yet there are those actively out there spreading the word DSLD is a heritable disease based on the error of the most recent study by BMC Veterinary Research. One only has to go to forums where breeding discussions are being held to see. Not only that, but breeders making informed decisions based on the material are being attacked by those misinformed individuals.

It is indeed unfortunate that not all people read the references. They assume the authors like those of the BMC Veterinary Research study has been careful in quoting the references to assure accuracy. They do not take it upon themselves to check those references to be sure they are indeed accurate before they make up their minds and declare themselves experts.

Another important piece of information is this study was not about the heritability of the disease at all. it was about what tissues are affected by the disease. Yet the statement about heritability is legitimized by its mention in the study. That is what many would call poor science.

Poor science isn't just about using improper techniques in reaching a conclusion. It also about stating things as fact that are not supported by the evidence, either the researchers or someone else's. In this case stating the disease is "heritable" is a gross error. An error that could even lead to the issue of heritability not being addressed because others believe that's already been done.

Another unfortunate side effect of this, besides the dissemination of incorrect information, it also affects the legitimacy of the study. True scientists tend to distrust a study that has misrepresented the truth whether on purpose or by error or even omission. Science wants clear facts and abhors muddy statements representing facts. It suspects those things mixed together and discounts their findings.

There's another thing that needs to be addressed here that would be this statement from the Young study. The question of heredity must be answered as there are several sire/son, dam/daughter and full sister combinations of affected individuals. .This is an important statement because the fact there have been related individuals who have manifested the disease does indeed suggest the possibility of a genetic link.

However, it takes more than "several" to do a valid study. Numbers are important in science because they rule out coincidence as a cause. They also rule out other unknowns. Bigger numbers are better. Smaller numbers are not to be trusted. Again, that is good science.

The reason for this is clear. When science jumps the gun before it has all the facts it can create a really big mess. There are many incidences of this in the past, some catastrophic ones, so it is wise to avoid jumping to conclusions before all the facts are in.

I might add that the observation of related individuals with the diagnosis of DSLD was within the breed of Peruvian Paso horses. To this point there have been no other familial relationships of affected horses that have been documented in the literature. That information also deserves study before a valid picture can be drawn.

Not only that but when you've looked closely enough to see that all of these "several" combinations diagnosed with DSLD came from the same family of horses . While that might "prove" to some heritability, the only thing it proves is that there is some form of commonality in that family. The "what" is still a big question mark.

Also to be considered is the fact that most of the other individuals diagnosed with the disease have no other affected family members at all. For a disease that is thought to be hereditary, this fact opens the door to lots of questions as well. Certainly there is enough information to suggest that heritability be considered but there's also information that suggests heritability may not be the case.

For me I'm going to stick to what I know and that is the science of the subject. I am going to do what I can to stay on top of that information because the last thing I want is to get behind it. But I don't want to make mistakes by getting ahead of it either.

I would like to add that the science does support some important characteristics about DSLD that have nothing to do with heritability. It's important to know what these are so affected horses can be properly diagnosed and not all horses with dropped fetlocks lumped into that group. There are indeed differences between DSLD affected and unaffected individuals.

"Unique to DSLD, however, is diffuse enlargement of the affected ligaments despite exercise restrictions [12,13] "

"Horses with DSLD typically develop an insidious onset of bilateral or quadrilateral lameness without a history of trauma or performance related injury [13].

Ultrasonography of affected ligaments is characterized by a diffuse loss of echogenicity and an irregular fiber pattern" [14-16].

12.Young JH: Degenerative Suspensory Ligament Desmitis.

Hoofcare and Lameness 1993, 6-19.

13.Mero JL, Pool R: Twenty cases of degenerative suspensory ligamnet desmitis in Peruvian Paso horses.

Abstract for AAEP, Orlando 2002, 48:329-334.

14.Dyson S: Diagnosis and prognosis of suspensory desmitis. In Proceedings of the 1st Dubai International Symposium. Edited by: Hauser ML, Matthew R. Rantanen Design, USA; 1996:207-225.


15.Dyson SJ, Arthur RM, Palmer SE, Richardson D: Suspensory ligament desmitis.

Vet Clin North Amer 1995, 11:172-215.

16.Gibson KT, Steel CM: Conditions of the suspensory ligament causing lameness in horses.

Equine Vet Ed 2002, 4:50-64.


These statements are from the BMC Veterinary Research study and the references stated do indeed support these statements making them a reliable resource in the diagnosis of this insidious disease.

Tuesday, March 2, 2010

Degenerative Suspensory Ligament Desmitis

One of my earlier posts about Solidare led to a comment about DSLD (Degenerative Suspensory Ligament Desmitis). Because this disease is believed to be a genetic disorder I think it is important to mention it here. The most comprehensive Information on the subject is the actual study that renamed this disease as ESPA (Equine Systemic Proteoglycan Accumulation).

This illness is a debilitating disease. It is extremely painful and easily cripples affected horses. It strikes not just the suspensory ligament as was first believed but can affect all connective tissue throughout the horse's body including in the eye and in the heart of the horse.

The most commonly recognized expression is in the fetlock area of the horse. That can be seen in all four legs or just the front or back with the horse dropping down suddenly or digressing over time. Even when the disease manifests with dropped fetlocks in only two legs, the other two legs are affected as well. That can be seen by the thickening of the suspensory ligament which may happen gradually or be present right from onset.

The disease can be diagnosed with an assortment of symptoms and usually require ultra sound of tendons and ligaments for confirmation.

Symptoms can include sudden onset of heat, pain and swelling in the suspensory branches and/or fetlock area.

Those areas or even the entire suspensory ligament of the horse may be painful upon palpation.

Ligaments and tendons may palpate as lumpy, hard or extremely mushy.

Horses may have abnormally high iron levels.

They may have abnormally loose skin.

They may look much older than they actually are.

There are also an assortment of behaviors indicative of neurological disease that indicate a horse may be a victim of DSLD. Because of the neurological aspects of these symptoms some horses may be misdiagnosed as having EPM (Equine Protozoal Myloencphepalytis) or WNV (West Nile Virus) when in fact DSLD is the culprit.

I believe this disease was referenced in regard to Solidare because of her dropped fetlocks. This is indeed one of the symptoms of this disease but it takes more symptoms than just dropped fetlocks to diagnosis this debilitating disease.

Solidare did not manifest any of those other symptoms at the time of her injury and to this day she does not have the tell tale thickening of the suspensory ligaments in her front legs that would have presented long ago has this been the cause of her dropped fetlocks. Any similar symptoms she has developed over time are consistent with her history and do not indicate a change of diagnosis.

It is important to remember not all horses with dropped fetlocks have DSLD/ESPA. There are other medical reasons a horse could end up with this condition and those reasons are investigated in process of diagnosis of DSLD/ESPA. A horse, like Solidare, that has an injury/illness history to warrant the condition of her fetlocks does not fit the profile of a DSLD/ESPA horse and some of the new treatment protocols for DSLD/ESPA are actually contrary to proper treatment for her.

Dr Deb Bennett stated she would not remove a horse from a breeding population for dropped fetlocks alone. I also know that Sheila Varian does not eliminate broodmares from her breeding program solely on dropped fetlocks. It's from her I learned about the feed additive she uses on her mares in similar condition that has brought Solidare some relief.

I believe it's very important to consider DSLD/ESPA as a possible diagnosis for any horse dropped down on the fetlock. It should not, however, be considered to be THE answer to all fetlock issues. The most important thing for the horse is to have a CORRECT diagnosis whatever that might be.

Monday, January 19, 2009

A Question on Color Genetics



Instead of finishing my post on beginning long lining, I got caught up in answering a genetics question on Science VS Tradition blog post Probability Genetics are so fascinating I lost track of time as I worked on trying to describe in simple terms my answer to this color question. I though maybe others might be interested in this information as well, so I'm going to post my answer here and get my long line post ready for tomorrow.

The question is "A mare homozygous at the bay loci, EEAA, is crossed to a stallion who is heterozygous at the bay loci, EeAa. What is the probability that their offspring will be bay?"

OK, this is kind of my thing since I love genetics. Which doesn't mean I can answer all kinds of color questions because I'm not good at the patterns except basics and I'm only beginning to get the hang of dilutions but I'm usually good with the basic colors. With that being said lets break this down and see what we get.

The bay agouti A (no bay agouti is represented by a) is dominant. It can only express on black, however, restricting that black color to the points. The bay agouti A remains hidden on a red coat color. The lack of agouti a is recessive so must be present as aa (one from each parent) for a horse with black A to actually be a black horse.

Here we have a mare EEAA being homozygous at the E Locus. Since the E represents black and e is red, she is homozygous not just for the bay agouti AA but also black with EE.

Since the black gene E is always dominant over the red gene e, you must have ee (one from each parent - which in this case you cannot get because the mare does not carry an e) to get a red coat color that would not show the presence of the bay agouti A.

With the mare contributing E it doesn't really matter whether the stallion contributes an E or an e, the resulting foal will carry an E to produce a black coat color. That color, however, will be restricted to the points by the dominant bay agouti. That pretty much guarantees you a bay horse.


Note: The density of the coat color will be affected by the Black E gene versus Red e gene coming from the stallion.

I hope this all makes sense. If not, fire away with your questions.



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