Lafora Disease

RE: Lafora Disease

Anthony Dennison — Thu, 15 Dec 2016 09:35:16 GMT

Sorry, been away for a couple of days! I have dealt with a couple of cases, and there is stuf fthat can help

[quote user="Clive Ansell"]No, just symptomatic and supportive treatment; as it is a genetic autosomal recessive, progressive neurodegenerative disease caused by abnormal glycogen metabolism.[/quote]

Yup - annoyingly it only manifests around 5 years old, so often they've already bred by this point. The mini wire breeders are a lot hotter on it than they used to be, most do test their stud dogs (especially as they can charge more if the dog is clear) but there are still a few breeders out there that are ignoring it/don't know

[quote user="Neil Wheadon"]In March 2014, the Kennel Club approved the DNA Lafora test developed in Canada as a recognised DNA test in mini wire dachshunds. [/quote]

The mini wire society did, for a while, organise big sampling sessions in various locations around the UK to send samples en masse to Canada. Doing it singly can be quite expensive. They use quite an older technique if I remember correctly as it gives the best results. Used to be with a cheek swab, now it's a blood sample

[quote user="Lou Dawson"]So it's most often a post-mortem diagnosis. In the literature there are reports of the diagnosis being made on biopsies of other tissues (muscle, liver) but I don't know how reliable or sensitive this is. I feel it might be a needle-haystack situation. If you do end up biopsying, make sure to note your suspicion on the history (apologies if this is too obvious). Many pathologists wouldn't routinely search for inclusions and if they are subtle it might be missed, but the history would prompt a thorough search for inclusions. [/quote]

I never did a biopsy, but apart from the DNA test (which can take an AGE to come back too) it's the only ante-mortem test there is. Skin, muscle and/or liver, so pretty invasive. However, the signalment and clinical signs are pretty much diagnostic themselves.

As it's a glycogen storage disease, a low CHO food is recommended. Something like James Wellbeloved Ocean Fish and Vegetable, or RC Diabetic diet (the former is a bit more palatable though).

Levetiracetam does work, however massive doses have to be used (start at 10-20mg/kg and work up to 50mg/kg if needed) and there definitely is a honeymoon period; with that and the progression of the disease they can really come crashing down. It is a form of epilepsy and they can still have tonic-clonic seizures (well, my cases did) so I used phenobarb as my first line, adding in levetiracetam once my doses were getting quite high.

KBr can be useful but hard to does in dogs this small, and the one case I considered it in kept getting pancreatitis so I couldn't use it.

If the dog isn't neutered, that can help (like it would in an idiopathic epilepsy case).

[quote user="Jenny Boyd"]Never seen one, apparently levetiracetam works best. as light is a big stimulus apparently you can get sunglasses for these dogs![/quote]

Jenny's right, you can get Doggles for them, my client said they did make a difference. They also get more twitchy when they're excited or wound up, so appropriate use of Adaptil or Pet Remedy is also useful.

[quote user="Neil Wheadon"] The disease progresses slowly over many years and other neurological deficits such as ataxia, blindness and dementia may occur. Dogs may have a near normal life expectancy, though as quality of life diminishes, the owner may be forced to take the ultimate tragic decision.[/quote]

They have this weird walk where their back end tries to overtake the front end, making them walk a bit like a crab - not the normal type of ataxia (though the jerks can be quite violent and make them fall over a lot).

It really depends on the dog - once case was euthanased at 8 because she went into status epilepticus, another that was picked up a lot earlier (thanks to testing the parents) has been managing ok. Affected dogs can have good and bad days; now in winter, it won't be too bad, but when summer comes around it's best walking the dog at dawn/duck to avoid the bright sunlight.

RE: Lafora Disease

Jenny Harris — Wed, 14 Dec 2016 16:17:50 GMT

Google 'doggles' !

RE: Lafora Disease

Jenny Harris — Wed, 14 Dec 2016 16:16:40 GMT

Never seen one, apparently levetiracetam works best. as light is a big stimulus apparently you can get sunglasses for these dogs!

RE: Lafora Disease

Allison Gleadhill — Wed, 14 Dec 2016 16:01:46 GMT

Pre DNA testing I confirmed this in a bassett hound by biopsy. I sent muscle & skin to Abbey. I think it was the muscle that made the diagnosis.

RE: Lafora Disease

Lou Dawson — Wed, 14 Dec 2016 14:14:27 GMT

[quote user="Clive Ansell"]

In human medicine, before the advent of DNA sequencing, Lafora disease could be distinguished through tissue biopsies by the presence of inclusions called "Lafora bodies" within the cytoplasm, which are composed of abnormal glycogen.

Does anyone know if this would help pinpoint a diagnosis in dogs?

[/quote]

Yes, abundant Lafora bodies on histology are diagnostic (small numbers are a normal finding). Trouble is, they are mostly within neurons (i.e. the brain). So it's most often a post-mortem diagnosis. In the literature there are reports of the diagnosis being made on biopsies of other tissues (muscle, liver) but I don't know how reliable or sensitive this is. I feel it might be a needle-haystack situation. If you do end up biopsying, make sure to note your suspicion on the history (apologies if this is too obvious). Many pathologists wouldn't routinely search for inclusions and if they are subtle it might be missed, but the history would prompt a thorough search for inclusions.

RE: Lafora Disease

Clive Ansell — Wed, 14 Dec 2016 11:07:08 GMT

Does anyone know if this would help pinpoint a diagnosis in dogs?

RE: Lafora Disease

Clive Ansell — Wed, 14 Dec 2016 10:48:43 GMT

[quote user="Neil Wheadon"]The client is convinced that the dog has this and signs are very suggestive[/quote]

Will it be investigated?

RE: Lafora Disease

Neil Wheadon — Wed, 14 Dec 2016 10:46:15 GMT

Yes

In March 2014, the Kennel Club approved the DNA Lafora test developed in Canada as a recognised DNA test in mini wire dachshunds. Copies of test results will now be sent direct to the Kennel Club, where results will be added to the dog’s registration details, triggering publication of results in the next Breed

Neil

RE: Lafora Disease

Clive Ansell — Wed, 14 Dec 2016 10:25:47 GMT

No, just symptomatic and supportive treatment; as it is a genetic autosomal recessive, progressive neurodegenerative disease caused by abnormal glycogen metabolism.

Are there any diagnostic or dna tests available for dogs?

RE: Lafora Disease

Thomas Johnson — Wed, 14 Dec 2016 10:23:26 GMT

I think Anthony Dennison has dealt with a couple of cases of this so he may be able to give you some advice.