Paroxysmal Dyskinesia

 

Gene: PIGN

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, PIGN gene; c.398 C>T, exon3

Medical systems: Neurological, neuromuscular

Breeds: Soft-coated Wheaten Terrier

Age of onset of symptoms: Young adult onset

Hereditary Paroxysmal Dyskinesia is a genetic disease seen in young adult Soft-coated Wheaten Terriers. The disease is characterised by episodes of movement problems (dyskinesia) which can include increased muscle activity with abnormal movements (hyperkinesia) as well as repetitive movements with twitching (dystonia).  Paroxysmal refers to the short, frequent recurrence of symptoms, otherwise known as episodes.  Episodes last for several minutes to several hours and can occur in excess of ten per day.  Episodes are triggered by excitement but not by exercise.  Canine Paroxysmal Dyskinesia has some similarities to epilepsy, but unlike epilepsy the affected animal remains conscious during episodes.  Anti-convulsive medication may be useful for managing the disease, but there is no cure.  As the causative mutation is recessive and has a relatively high frequency within the Soft Coated Wheaton Terrier breed, DNA testing of prospective breeding animals is advised.

 

References:
OMIA link: [2084-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Santifort KM, Mandigers PJJ. (2022) Dystonia in veterinary neurology. J Vet Intern Med 36:1872-1881. [pubmed/36086931]

Cerda-Gonzalez S, Packer RA, Garosi L, et al. (2021) International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med 35:1218-1230 [pubmed/33769611]

Stassen QEM, Koskinen LLE, van Steenbeek FG, et al. (2017) Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. J Vet Intern Med. 31(4):1123-1131 [pubmed/28703446]

Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, et al. (2017)  A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.  Neurogenetics 18:39-47. [pubmed/27891564]

Lowrie M, Garosi L. (2017) Classification of involuntary movements in dogs: Paroxysmal dyskinesias. Vet J. 220:65-71. [pubmed/28190498]