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Dog DNA testing illustration

Lafora disease

Code: H468

133,70 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Lafora's disease is a hereditary, late onset, progressive myoclonic epilepsy.

General information

Lafora’s disease is a hereditary, late onset, progressive myoclonic epilepsy. One of the features of the disease is a myoclonus, a sudden contraction of a group of muscles characterized by jerking the head backwards, which can be induced by flashing lights, sudden sounds and movement especially close to the dog’s head. Lafora’s disease can occur spontaneously in any dog breed however some dog breeds are predisposed.

Specifications

Breeds

Brussels Griffon, Poodle (Miniature), Poodle (Standard), Basset Hound, Beagle, Chihuahua, Dachshund, French Bulldog, Newfoundland, Pembroke Welsh Corgi

Gene

NHLRC1

Chromosome

35

Organ

Nervous System

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

Lafora disease

Clinical features

The first signs of Lafora's disease occur in affected dogs over 5 years of age, with myoclonic seizures (characterized by jerking of the head). The disease progresses rapidly, and can result in further neurological symptoms like ataxia, blindness and dementia.

References

Pubmed ID: 15637270

Year published: 2005

Omia ID: 690

Omia variant ID:

Turnaround information

  • 20 working days