paroxysmal kinesigenic dyskinesia (PKD)

PKD is part of our Childhood Epilepsy Panel (NGS). Click here to access a complete list of the genes covered in this panel. 


DESCRIPTION

 

PKD is an autosomal dominant epileptic co product of mutations in the gene PRRT2, which is also related to the BFIS and ICCA syndromes. The onset, as well as the severity and symptoms present may vary. However, onset takes place typically during childhood or adolescence, although it can appear later. Familial PKD is predominantly seen in males.

 

PKD seizures are precipitated by sudden movements such as standing up from a sitting position, being startled, or changes in velocity, resulting in combinations of movement disorders such as dystonia, choreoathetosis and ballism. Occassionally, seizures are preceded by an aura (perceptual disturbances that can announce a seizure) and do not involve loss of consciousness. Frequency and duration, can also vary greatly. Attacks can be as frequent as 100 per day to as few as one per month and last up to several hours, although they usually range between a few seconds and five minutes.


All of Amplexa's neurology tests can be found in our Neurology Brochure.

neurology