Paroxysmal dyskinesia, PIGN-related

Disease overview

Dyskinesia is a neurological condition characterized by muscle spasms and involuntary muscle contractions.

Gene name

PIGN

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with muscle spasms and involuntary muscle contractions, which leads to repetitive and/or twisting motions. These last a few minutes to a few hours, but can randomly occur as often as 10 times a day. Spasms and contractions can be triggered by excitement or other environmental factors. Signs typically worsen with 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

Soft-Coated Wheaten Terrier

Citations

Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O'Brien DP. A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics. 2017 Jan;18(1):39-47. doi: 10.1007/s10048-016-0502-4. Epub 2016 Nov 28. PMID: 27891564; PMCID: PMC5243907.