Disease overview

Myoclonus epilepsy of Lafora is a neurologic disease characterized by recurrent seizures.

Gene name

NHLRC1

Inheritance

Autosomal recessive

Signs and symptoms

Seizures often involve the front half of the body during a relaxed or drowsy state. Affected dogs may appear confused or scared following an episode.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

, , , , , Miniature Wirehaired Dachshund, , Pointer,

Citations

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA. Expanded repeat in canine epilepsy. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. PMID: 15637270.

Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V. NHLRC1 repeat expansion in two beagles with Lafora disease. J Small Anim Pract. 2016 Nov;57(11):650-652. doi: 10.1111/jsap.12593. Epub 2016 Oct 16. PMID: 27747878; PMCID: PMC5658008.

Barrientos L, Maiolini A, Häni A, Jagannathan V, Leeb T. NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. Anim Genet. 2019 Feb;50(1):118-119. doi: 10.1111/age.12756. Epub 2018 Dec 7. PMID: 30525203.

Kehl A, Cizinauskas S, Langbein-Detsch I, Mueller E. NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease. Anim Genet. 2019 Aug;50(4):413-414. doi: 10.1111/age.12795. Epub 2019 Jun 6. PMID: 31172540.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.