[1] It is characterized by sudden, transient, involuntary movements, often including repetitive twisting motions and painful posturing triggered by exercise or other physical exertion.

[2] The term paroxysmal indicates that the episodes are sudden and short lived and usually unpredicted, and return to normal is rapid.

Episodes are relatively short-lived, lasting anywhere from 5–30 minutes, and in most cases disappear completely after cessation of the physical exercise.

[8] A suspected contributor to familial PED is a mutation in the GLUT1 gene, SLC2A1, which codes for the transporter GLUT1, a protein responsible for glucose entry across the blood–brain barrier.

[5] It is not thought that the mutation causes a complete loss of function of the protein but rather only slightly reduces the transporter's activity.

[8] In a study of PED patients, a median cerebrospinal fluid/blood glucose ratio of .52 compared to a normal .60 was found.

[5] Another recent study was performed to continue to look at the possible connection between PED and mutations on the SLC2A1 gene which codes for the GLUT1 transporter.

It appears that patients with PED would have normal neurological examinations and MRI but the noticeable characteristic would be in low levels of glucose in the cerebral spinal fluid due to the GLUT1 mutations.

[10] A correlation between epilepsy and PED has been observed in several families across multiple generations, demonstrating an autosomal dominant heritability of symptoms.

Various evidence shows that the disorders are likely caused by dysfunction in voltage-gated ion channels, which may lead to abnormal excitability in different brain regions, specifically the cerebral cortex and basal ganglia.

This diet is thought to help restore the unbalance created by the decreased amount of glucose in the brain caused by the faulty GLUT1 transporter.

This diet was administered to three patients who had been screened and found to have mutation in their SLC2A genes coding for GLUT1 and were experiencing PED symptoms.

Additionally, a modified version of the Atkin's diet helped to regulate glucose levels in the cerebrospinal fluid.

[5] Another study using subtraction single photon emission computed tomographic (SPECT) imaging technique which was coregistered with an MRI on a patient presented with PED symptoms showed increased cerebral perfusion in the primary somatosensory cortex area, and a mild increase in the region of the primary motor cortex and cerebellum.

[citation needed] Since paroxysmal exercise-induced dystonia is such a rare disorder it makes it difficult to study the disease and find consistencies.

Patients with PED are living a limited lifestyle since simple tasks like walking and exercise are often impossible.