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H335

Generalized myoclonic epilepsy with photosensitivity is a neurological disorder in the Rhodesian Ridgeback that causes sharp, abrupt jerking of muscles in affected dogs.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

General information

Generalized myoclonic epilepsy with photosensitivity is a neurological disorder in the Rhodesian Ridgeback that causes sharp, abrupt jerking of muscles in affected dogs. The disease is caused by a recessive mutation to the gene DIRAS1.

Clinical features

Myoclonic jerks and twitches start presenting in young affected dogs, anywhere between 6 weeks and 18 months of age. The jerks are severe and can be startling, occurring without any behavioral warning, though they typically occur when the dog is resting or tired. The muscles most affected are those of the upper limbs, trunk, neck and face. Seizures can occur in response to bright or flashing light.

Additional information

References

Pubmed ID: 28223533

Omia ID: 2095

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