Survey Results Autumn 2012

In October/November 2012, the Laforadogs team conducted a survey amongst owners of known and suspected Lafora affected dogs, including those diagnosed as affected via the WHDC Lafora testing scheme who have, as yet, not shown any symptoms. Read more about it below, or to get involved, please click here to take part in our 2013 survey or here to read about why it is so important.

Lafora Survey – an interim report into work on the progression, impact

and veterinary diagnosis of the condition in Mini Wire Dachshunds in the UK

Gill Key

About Lafora in Mini Wires

Lafora disease is an inherited form of epilepsy that affects Miniature Wire Dachshunds in particular. The condition typically only becomes apparent at any time from the age of 5 onwards. Clinically affected dogs can exhibit a variety of symptoms, amongst them fitting, jerking of the head (myoclonus), blindness, dementia and unsteadiness. In 2010-12 in the UK, a number of genetic tests have been conducted amongst control groups by the Wirehaired Dachshund Club (WHDC) in order to establish the degree of the problem and reduce the incidence of the condition in the breeding population.

Test results on individual dogs can be viewed on a public database at http://www.whdc.co.uk/lafora-results-jan-2012.php. Work continues to develop an affordable, simple and quick genetic test , and the more results will be added as they become available. Not all dogs identified as ‘affected’ within this work have, as yet, developed the typical symptoms, but as a number of them are still less than 5 years old and the disease can start to take effect at any time from 5 onwards, it is possible that they may do. From test results so far, it appears that around 10% of UK bred Mini Wires may be ‘affected’, i.e. carry two copies of the mutation, one from each parent, which by deduction indicates that approx. 40% of the population may be carriers, i.e. are at risk of producing more ‘affected’ puppies if they are bred with others carrying the mutation. (see chart 1).

Why a Survey was Conducted

At a Health Seminar attended by a number of dachshund owners, showers and breeders earlier this year, a veterinary neurologist mentioned he had only seen two cases of Lafora and implied that it was not therefore a significant problem within the Mini Wire Dachshund population. In addition, some well known breeders/showers have implied that Lafora is not a serious problem, which means both that no further research is required, and prospective puppy owners should not be concerned. However, without quantitative and qualitative evidence about the progression, impact of Lafora symptoms on the dogs and their owners and the rate of diagnosis, this statement cannot be taken at face value. Results have now started to come in and whilst the numbers involved so far are still too small to be statistically significant, some interesting feedback has already been returned and trends have started to emerge that require further investigation.

What We Did

An initial survey was sent to the following:

  • all owners of dogs diagnosed as Lafora affected through the WHDC scheme, whether or not they were clinically affected. (29 dogs in total)
  • Known owners of dogs diagnosed with Lafora outside the scheme. (6 dogs)
  • Known owners of dogs showing Lafora symptoms, including those dogs that have been tested and are awaiting diagnosis via WHDC scheme and dogs that have died. (48 dogs)

 

Of 22 respondents who have responded so far, one said they had not owned a dog with Lafora, although they also confirmed the dog had been diagnosed as Lafora affected through the WHDC scheme; 5 respondents said they had dogs diagnosed as Lafora affected via the WHDC scheme that have shown no clinical signs of Lafora.

Of the non-clinically affected dogs, at the time of the survey, 2 were aged 3, 1 aged 4.5, 1 was 5 and one was age 7, i.e. the majority are lower than the clinically accepted typical age of onset (>5 years). The survey identified 13 symptoms typically seen in Lafora affected, or assumed affected, dogs:

Symptoms Surveyed:

  1. myoclonus (twitching/jerking back)
  2. petit mal (short-term absence)
  3. reaction to sunlight (panic, fear, confusion)
  4. lack of coordination (stumbling on rough ground, difficulty negotiating small steps, problems taking treats offered)
  5. blindness/poor eyesight
  6. grand mal fitting
  7. panic attacks (extreme fear, uncontrolled running, including into obstacles etc. , high-pitched screaming)
  8. jaw smacking
  9. aggression (to humans and/or dogs)
  10. deafness/hearing problems
  11. dementia
  12. periodic muscle spasms (resulting in reluctance to move for short periods, interspersed with normal behaviour)
  13. incontinence

 

A second survey was sent to respondents from Survey 1 who had reported seeing signs of Lafora in their dogs, as well as to those who had not responded to Survey 1 from the Laforadogs database. This survey included further questions about the impact of living with a Lafora dog and included more detailed questions on age of onset, age, and range and severity of symptoms seen.   Only 10 of the 30 Survey 2s sent have as yet responded, which means this is a small sample population.

The average age of dogs in Oct. 2012 reported by respondents was 8 years 2 months old. Therefore, as the disease is progressive, not all dogs may yet have developed the full range of symptoms.

The survey will remain open for now but will be replaced with another version, that has been developed with Dr. Clare Rusbridge, to research the progression of the disease.

Impact

It is difficult to gauge the true level of distress that is caused to affected dogs, but these two ‘before’ and ‘after’ short films illustrate the devastating impact on a much-loved pet:

Before:                http://youtu.be/DCYPU0eDOwM

After:                     http://youtu.be/nArmzxS3scI

It is much easier to judge the impact on the owners who live with the day to day reality of Lafora, many of whom face years of looking after much loved pets that are deteriorating before their eyes, as well as significant veterinary bills and significant restrictions to their own lives.

The following extracts from survey answers illustrate this vividly:

  • “The panic attacks were the most awful things to experience. She was so terrified and would run manically around and it took her quite a while to get over them. This was potentially extremely dangerous if it happened when she was out for a walk. I worried constantly about them happening and was so concerned that she was suffering. It upset the children hugely when they used to see her having her attacks. She was the best of dogs and I miss her so much. It was awful she had to go through so much trauma.”
  • “It’s soul destroying to see your beloved dog slowly deteriorating. Something as simple as a small 2″ jump into the house becomes like jumping Beacher’s Brook.”
  • “Whilst I did not know at the time it was Lafora, the symptoms were horrific. They were terrifying to watch and heartbreaking, since I didn’t know how to help him.”
  • “We became 24 hour carers”
  • “We have been affected badly because we cannot take her to friends or strange places now because she panics. That means there are no days out our holidays spent together with her and my other dogs. We have to get a relative or friend to doggy sit if we want to go out for longer than 3 hours”
  • “We have not had a dog since. We would love to have another mini wire, however we cannot find a breeder we feel we can trust.”

Veterinary Diagnosis and Symptoms Seen

Nearly 72% of those surveyed reported the age of onset of first symptoms was between 5-8 years old, with a mean age of onset of 7 years 1 month (note: figure skewed by the outlying incidence of late onset at 12 reported).

Perhaps most significantly, when symptoms first started, only 1 vet recognised that they may be related to Lafora. The owner already knew of the condition and says she was ‘99% certain it was Lafora’ and suggested this to the vet. This result suggests that the majority of General Practice vets do not recognise Lafora, which in turn would mean they may not refer the dog for further investigation, which may account for the low number of possible Lafora patients referred to the Neurologist speaking at the seminar. 

100% of owners of dogs with Lafora symptoms reported myoclonus (twitching/jerking back), and of other symptoms seen, petit mal, reaction to sunlight, lack of coordination were mentioned the most times, followed by grand mal, panic attacks and jaw smacking. Poor hearing, dementia and aggression (towards humans and/or other dogs), were identified in fewer dogs, and least mentioned were temporary muscle spasm (causing pain, stillness etc.) and incontinence.

Whilst the analysis is compromised by the small sample size, a normal distribution appears to be developing, with a peak of dogs exhibiting around 50% of possible symptoms [i.e. 7-8 different symptoms, with a range of severity and impact].

The average age of dogs surveyed (8 years 2 months) may have had an impact on both these results: poor hearing, dementia and aggression are anecdotally more common in later stages of the disease, which means that it is likely that fewer owners will have seen some of the more severe symptoms.

Further work is required on both the progression of the disease and the relative impact of the symptoms to investigate this.

Breeder Attitude

Some well-known breeders have publicly suggested that Lafora is not a big problem and therefore having a widespread testing programme is not necessary. Respondents to the survey were asked for their opinions about these comments.

  • “They have obviously never seen a dog suffering from Lafora or they wouldn’t be so heartless. Anything that can be done to prevent this awful disease is worth doing and anyone who cares for their animals would want to do all they can.”
  • “I would say that they have probably never experienced it first hand. If they were ever unfortunate enough to witness a loved pet behaving in that way then they would not hesitate. Lafora took away my dog well before his time and turned him into something else, unrecognisable. If I can stop anyone else going through what I did I would. Breeders have a responsibility to both owners and dogs to eradicate this cruel, destructive disease.”
  • “ If youbelieve it is not important to test dogs for Lafora, you do not deserve to own a dog, let alone breed. We have witnessed the worst symptoms of Lafora and this attitude is tantamount to cruelty to the dog – and their owner.  Over the course of 18 months, veterinary bills ran to £1000s. Owners who love their dogs will give up anything to help them and it is not a cold-hearted case of simply having the dog put down when you become aware they are terminally ill.”
  • “Absolutely disgusting. Dogs need testing before they are bred from. This is a horrible illness both for the dog and their owners.”
  • “The breed has enough health problems as it is. Mini wires may well become extinct in the end – would you buy a puppy with a potential death sentence looming in the future?”
  • “Personally I think if tests are available, they should be made compulsory. If I bred again, I would certainly have them all for peace of mind and health of the dogs.”
  • “I have little time for breeders who say that having a Lafora dog does not have a big impact. My husband and I have had to change our whole way of life to accommodate our dog’s condition. We take looking after her seriously and would not do anything to unsettle her if we can help it. However, this is not how we would wish to spend our retirement.”

 

 

What Now?

A new Survey has been developed in conjunction with Dr Clare Rusbridge, one of the Veterinary Neurologists who first recognised Lafora like symptoms in Mini Wires. The survey includes questions about the dates of birth and death, age of onset and level of veterinary knowledge,/awareness. It also asks respondents about progression of the disease, including the age at which each of the symptoms appeared, if at all.

Help is being sought to raise awareness amongst the Veterinary Profession of both the condition and the survey, and further work is underway in raising awareness amongst pet owners and particularly prospective puppy buyers about:

  • the reality of owning a dog that has developed Lafora
  • the attitude of some breeders who may seek to persuade them it is not a problem

In particular, prospective Mini Wire pet owners are strongly advised to buy only from tested stock or through careful pedigree analysis.

For more information about this survey, a powerpoint version of this report, including graphs  or if you have any questions about the new survey questionnaire  please contact:

laforadogs@btinternet.co.uk

Thank you.

www.laforadogs.org

 

 

One Response to “Survey Results Autumn 2012”

  1. Mandy Dance says:

    I am so pleased that the test is now available and I hope the KC make it a compulsory part of the Accredited Breeders very soon.

    If all purchasers chose KC AB’s the problems would be reduced.

    Unfortunately as you say some “top” breeders simply don’t care but they are generally not Accredited either and they won’t read the distressing symptoms and letters from owners of affected dogs as they won’t bother to access this site.

    Please let people out there know there are a few of us who genuinely care about the breed and not our egos!

    Keep up the good work,
    Mandy

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