Disease overview

Paroxysmal dyskinesia is an early-onset neurological condition characterized by muscle spasms and involuntary muscle contractions. This is a severe condition with no cure.

Gene name

SOD1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will have increased muscle tone, muscle cramping, and/or paralysis of all four limbs. These signs begin at a young age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory tests and/or a neurological exam may be conducted. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Markiesje

Citations

Mandigers PJJ, Van Steenbeek FG, Bergmann W, Vos-Loohuis M, Leegwater PA. A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy. Hum Genet. 2021 Nov;140(11):1547-1552. doi: 10.1007/s00439-021-02271-6. Epub 2021 Mar 7. PMID: 33677640; PMCID: PMC8519843.

Disclaimer

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