Disease overview

Mitochondrial neurodegenerative disease with epileptic encephalopathy is a severe, early-onset neurological disorder characterized by seizures.

Gene name

PITRM1

Inheritance

Autosomal recessive

Signs and symptoms

Seizures occur as early as 6-12 weeks of age and progress rapidly. They present as facial twitching, salivation, jerking head movements, and anxious behavior. This is a fatal, severe disease that typically calls for humane euthanasia at an early age.

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

Citations

Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9. PMID: 33835239; PMCID: PMC8519929.

Disclaimer

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