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Lafora disease in miniature Wirehaired Dachshunds
Lindsay Swain1, Gill Key2, Anna Tauro1
1Fitzpatrick Referrals Orthopedics and Neurology, Halfway Lane, Eashing, Godalming, Surrey, United Kingdom.
Plos One
|August 3, 2017
Summary
Lafora disease in Miniature Wirehaired Dachshunds presents with progressive myoclonus and seizures, often starting around 7 years old. Later signs include dementia and blindness, impacting quality of life.
Area of Science:
- Veterinary Neurology
- Canine Genetics
- Epilepsy Research
Background:
- Lafora disease (LD) is a severe, progressive myoclonic epilepsy linked to Epm2b gene mutations.
- It affects Miniature Wirehaired Dachshunds (MWHD) with a high carrier rate, potentially up to 20%.
- Clinical signs and disease progression in affected dogs are not well-documented.
Purpose of the Study:
- To characterize the clinical signs and disease progression of Lafora disease in MWHD.
- To provide a foundation for developing targeted therapeutic strategies.
Main Methods:
- A survey was distributed to owners of MWHD diagnosed with Lafora disease.
- Data from 27 affected dogs (homozygous for Epm2b mutation) were analyzed, excluding pre-symptomatic individuals.
Main Results:
- The average age of onset for clinical signs was 6.94 years.
- The most common initial signs were reflex and spontaneous myoclonus (77.8%), followed by hypnic myoclonus (51.9%) and generalized seizures (40.7%).
- Later signs included dementia (51.9%), blindness (48.1%), aggression, deafness, and incontinence.
Conclusions:
- Lafora disease in MWHD is characterized by progressive myoclonus, seizures, and later neurological deficits like dementia and blindness.
- Understanding the disease's clinical spectrum is crucial for future treatment development.
