Editor's Note: A recent report published in JAMA Neurology[1] describes a relatively newly described condition characterized by a restlessness in the pelvic region. Medscape spoke with lead author Camila Henriques De Aquino, MD, a clinical fellow at Toronto Western Hospital, about the pathophysiology, diagnosis, and treatment of what has come to be called "restless genital syndrome." Co-author Anthony Lang, MD, director of the Division of Neurology at University of Toronto, served as a consultant to Dr Henriques De Aquino on some of her responses.

Medscape: Until late last year, I'd never heard the term "restless genital syndrome (RGS)" What exactly is this disorder?

Camila Henriques De Aquino, MD: This is a somatosensory disorder characterized by an unpleasant sensation involving the genital area and pelvis. It has been defined as a spontaneous, intrusive, and unwanted genital arousal (eg, tingling, throbbing, pulsating) that occurs in the absence of sexual interest and desire.

Medscape: When was RGS first described?

Dr Henriques De Aquino: The syndrome was first described in 2001,[2] initially under the terminology of "persistent sexual arousal syndrome" (PSAS). Later, in 2003,[3] it was recognized that the symptoms were caused by a genital sensory abnormality instead of a sexual desire, and then the name was switched to "persistent genital arousal disorder" (PGAD). Finally, in 2009,[4] an association with restless leg syndrome (RLS) was recognized, and the name "restless genital syndrome" was proposed.

Medscape: What clinical symptoms characterize the disorder and how would you recommend that clinicians screen for it?

Dr Henriques De Aquino: Patients complain of a discomfort in their genital area which can be described as a burning sensation, tingling, pain, itching, or throbbing. Often they say that it is difficult to find a word to describe their symptoms. It has been observed that symptoms tend to be worse when patients are sitting or lying down, particularly in the evening, and can be alleviated by standing and walking. In some cases, patients report an urge to get up and move, which would be an important clue for the diagnosis of RGS. The association with typical RLS symptoms and periodic limb movements while asleep would strongly support this diagnosis.

Patients with these symptoms would normally seek care from gynecologists, urologists, or family physicians. Doctors need to be aware of this disorder in order to make a correct diagnosis. Some authors have associated RGS symptoms with pudendal nerve or dorsal nerve of the clitoris neuropathy, Tarlov cysts, or genital vasocongestion, which may justify an investigation for those conditions as a differential diagnosis. However, it is difficult to establish a causal relationship, and treatment of those conditions has not been clearly associated with improvement of the RGS symptoms.