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Paroxysmal Dyskinesia

Genetic Test

The PIGN gene encodes the enzyme GPI ethanolamine phosphate transferase-1, which is involved in the synthesis of glycosylphosphatidylinositol (GPI). GPI anchors various proteins, including CD59, to the cell surface. Paroxysmal dyskinesia is believed to result from a hypomorphic missense mutation in the PIGN gene and is inherited in an autosomal recessive manner.

Disease Description

Paroxysmal dyskinesia is a disease reported in Soft-Coated Wheaten Terriers caused by mutations in the PIGN gene. Affected dogs exhibit episodes of abnormal movements, particularly characterized by excessive flexion and extension of the hind limbs.