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Adult Paroxysmal Dyskinesia

Adult Paroxysmal Dyskinesia (APD) is an inherited neurological disorder characterized by intermittent, uncontrollable episodes of muscle contractions affecting primarily the limbs in dogs.

Affected Genes: PIGN

Inheritance: Autosomal Recessive

Variant(canFam6):
chr1:15672655: C>T

Breed: Soft Coated Wheaten Terrier

General Information: Adult Paroxysmal Dyskinesia (APD) in dogs is a progressive neurological condition in which symptoms typically manifest around 2 years of age. The disorder is marked by sudden, recurring episodes of involuntary muscle movements that lead to abnormal flexion and extension of the limbs, often more pronounced in the hind limbs. These episodes can vary in duration from a few minutes to several hours and may occur sporadically ranging from multiple times a day to once every few weeks. Dogs generally appear normal between episodes, but can be triggered by excitement or stress. As the disease progresses, the frequency and severity of the episodes may increase, leading to significant distress and a decline in quality of life, often resulting in euthanasia within a couple of years from the onset of symptoms.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Adult Paroxysmal Dyskinesia (APD) identifies known mutated variants in the PIGN gene, and is crucial for breeders to assess the carrier status of their dogs. This disorder is autosomal recessive, requiring a dog to inherit two copies of the mutated genetic variant, one from each parent, to exhibit symptoms. Carriers, possessing only one copy of the gene, do not show symptoms but can pass the variant to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. It is recommended that carriers should not be crossed to prevent the birth of affected puppies. Reliable genetic testing helps in making informed breeding decisions, aiming to reduce the prevalence of this disorder in future generations. It's important to note that a clear genetic test does for this variant not rule out other potential causes or unknown variants.

References:
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 18(1):39-47.