Involuntary movements can take many forms such as ballism, chorea or dystonia and usually only affect one side of the body or one limb in particular.
[4] This phenomenon is actually quite common, with about 42% of individuals with PKD reporting a history of afebrile seizures as a child.
Paroxysmal kinesigenic dyskinesias are often inherited in an autosomal dominant fashion and several genes have now been identified where mutations can cause this disease.
The main problem with many of the studies concerned with the pathophysiology of the disorder is the small sample size.
[11] The researchers found interictally decreased cerebral blood flow in the posterior parts of the bilateral caudate nucleus.
[11] Another SPECT study showed an increase in the cerebral blood flow in the left posterior thalamus in a PKD patient during an attack.
They found that the left postcentral gyrus and the bilateral putamen had increased ALFF in PKD patients.
[14] The researchers concluded that the hyperactivity in these regions suggested that there is a dysfunction in the basal ganglia-thalamo-cortical circuit in PKD.
Diffusion tensor imaging (DTI) displays physical alterations in the brain that may not be seen on regular MRI.
Other cases are cited, including a patient who developed a similar paroxysmal dyskinesia after a thalamic infarction,[13] implicating that an abnormality in the thalamus of individuals could contribute to PKD.
Some patients describe it as a tingling sensation in the affected limb or “butterflies in their stomach.” Some individuals also have precipitants, such as stress and anxiety, that make it more likely for attacks to occur.
[3] Individuals with the disorder can also modify their behavior to lessen their attacks without the influence of drug therapy.
[3] A movement disorder similar to PKD was first mentioned in research literature in 1940 by Mount and Reback.
He described a disorder that was induced by sudden movements, and responded to anticonvulsants, naming it paroxysmal kinesigenic choreoathetosis.