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Lafora's disease is an inherited, late onset, progressive myoclonic epilepsy.

Working days 15

Specifiche

Breeds

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Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Lafora’s disease is an inherited, 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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 15637270

Omia ID: 690

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