Prevention of genetic

diseases in Dog Breeding

(FCI Group 4)

Lafora Disease in Miniature

Wirehaired Dachshund

João Sá, 1José Dias, 1Margarida Queiroz, 1Maria Campos, 1Maria Maia, 1Maria Cardoso
1

Instituto Universitário de Ciências da Saúde, Cooperativa de Ensino Superior Politécnico e

1

Universitário (CESPU), CRL, 4585-116 Gandra, Portugal

Mestrado Integrado em Medicina Veterinária, 3º Ano, 1º Semestre

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 Index:
1. Abstract ……………………………………………………………… 3

2. The Breed ……………………………………………………………. 3

3. Lafora Disease ……………………………………………………….. 3

4. Incidence of the disease ……………………………………………. 4

5. Genetic Testing ……………………………………………………… 4

6. The role of the Veterinarian ………………………………………… 5

7. Conclusion ……………………………………………………………. 5

8. References ……………………………………………………………. 5

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Abstract

This monograph delves into the multifaceted aspects of the Dachshund breed,
with a particular focus on the Miniature Wirehaired Dachshund and the
occurrence of Lafora Disease. The investigation encompasses the breed's
diversity, the genetic underpinnings of Lafora Disease, its clinical
manifestations, incidence rates, genetic testing protocols, and the pivotal role
of veterinarians in mitigating the impact of this devastating condition.

The Breed

The Dachshund, also known as the Dackel or Teckel, is recognised by the FCI as
one of the most multifaceted hunting breeds. There are three sizes of this
German breed (Dachshund, Miniature Dachshund and Rabbit Dachshund) and
three different coat varieties (short, wirehaired, and long), giving a total of nine
possible combinations. [6]

Lafora Disease

Lafora Disease emerges as a rare, incurable, and fatal form of progressive

myoclonic epilepsy that particularly affects the Miniature Wirehaired
Dachshund. This condition, caused by a mutation in the Epm2b gene, triggers
the intracellular accumulation of abnormal glycogen, known as Lafora bodies.
The accumulation of these bodies, which have a neurotoxic effect on nerve
cells, causes them to begin to fail and degenerate, leading to neural problems
such as contractions, involuntary movements and sometimes seizures. For this
disease to be present and affect puppies, both parents must carry a copy of the
mutation (autosomal recessive disease). [2,3,4]

The most common clinical signs are reflex and spontaneous myoclonus,
hypnotic myoclonus, generalized seizures, focal seizures, vision impairment,
aggression, and urinary incontinence, the first three of which are more common
at first. [2]

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Incidence of the disease

In 2017, the incidence of the disease affected only 3% of Miniature Wirehaired

Dachshunds in the UK, while 26% were identified as carriers. [3]

So far, the disease has been reported in several breeds, including Miniature
Wirehaired Dachshund, Basset Hound, Beagle, Chihuahua, Pembroke Corgi, as
well as Miniature Poodle, Standard Poodle and Pointer, as evidenced by
histological analysis. However, due to the instability of the disease, it can occur
in any purebred or mixed breed dog. [1]

As well as being seen in dogs, there are also cases of the disease in humans,
and the discovery of the gene in 2005 was due to a collaboration between
human and veterinary medicine. [4]

To date, there is no treatment available for the disease, and the only option is
to control the clinical signs. [1] In view of this, further studies are needed to
deepen our understanding of the disease, allowing for the development of
more specific therapeutic strategies, adjusted according to the evolution of the
clinical picture. [2]

Genetic Testing

The fact that there is an increase in concern about the health of pedigree dogs,
the use of genetic testing has been growing in recent years. [5]

DNA testing is now compulsory in the UK Kennel Club's breeder programme,

and from 2012 to 2017 around 700 Miniature Wirehairs were tested for the
disease. [3]

In Europe, two laboratories offer this service, Laboklin uses the Southern Blot
test and Genomia uses the PCR test, the latter requiring only a saliva sample.
The results are provided in two to three weeks, both in one laboratory and the
other. [3]

In addition, the Wirehaired Dachshund Club, with the help of the Dachshund
Breed Council, has started an educational programme aimed at breeders and
owners to raise awareness of the disease and the importance of testing before
breeding [4]

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The role of the Veterinarian

The fundamental role of veterinarians in raising awareness of genetic screening

and careful selection of breeding stock stands out as a crucial tool in the fight
against genetic diseases in pedigree dogs. The integration of genetic testing,
medical examinations and health screening contributes to the creation of more
informed breeding programmes, aimed at genetic improvement and animal
welfare. [5]

Several veterinarians indicate that, in addition to genetic testing, a diet rich in

antioxidants and low in carbohydrates is necessary for the correct management
of Lafora disease. [1]

Conclusion

To summarize, the journey to control Lafora disease in Miniature Wirehaired

Dachshunds reflects a multi-faceted collaborative effort. Breeders,
veterinarians, and organizations have come together to try to reduce the
incidence of the disease and advance the responsible care and selection of
these beloved pets.

References:

[1]: Von Klopmann, Thilo, Saija Ahonen, Irene Espadas-Santiuste, Kaspar

Matiasek,Daniel Sanchez-Masian, Stefan Rupp, Helene Vandenberghe, Jeremy
Rose, Travis Wang, Peixiang Wang, Berge Arakel Minassian, e Clare Rusbridge.
2021. «Canine Lafora Disease: An Unstable Repeat Expansion Disorder». Life
11(7):689. doi: 10.3390/life11070689.

[2]: Swain, Lindsay, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang,
Cameron Ackerley, Berge A. Minassian, e Clare Rusbridge. 2017. «Lafora

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Disease in Miniature Wirehaired Dachshunds». PLOS ONE 12(8):e0182024.
doi:0.1371/journal.pone.0182024.

[3] Lafora Disease in Miniature Wirehairs Caution & Awareness Advised. Nestlé
Purina, 2020.

[4] Seath, Ian J., e Sophie Carr. 2017. «Reducing Canine Genetic Disease».
Impact 3(1):22–25. doi: 10.1080/2058802X.2017.11964019.

[5] Carlos, Maria, et al. Relatório Final de Estágio Mestrado Integrado Em

Medicina Veterinária Condições de Criação de Cães Em Portugal. 2022.

[6] Federation Cynologique Internationale (AISBL) Dachshund. 25 May 2021.

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