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H468

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

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Caractéristiques

Breeds

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Gene

Chromosome

35

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Also known as

Lafora disease

Informations générales

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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 15637270

Year published: 2005

Omia ID: 690

Omia variant ID: 756

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