Chapter One: Yes, It Is a Real Disease
The miserable have no other medicine, but only hope. -- William Shakespeare, Measure for Measure
The word nightwalkers describes people (like me) who are forced to endure profoundly disagreeable creepy-crawly symptoms in their legs that can be relieved only by movement or medication. Walking is the method most commonly used, and since the restless limbs suffer more at night, the severely afflicted may have to walk all night long. Hence nightwalkers.
The severity of symptoms ranges from mild (uncomfortable and intermittent), to moderate, to severe (distressing and daily). Those with the severe form -- who have the agony of serious sleep deprivation as well as the discomfort of RLS -- have in some cases been driven to suicide.
My RLS eventually became severe: sleep was impossible until daybreak. I spent many dark hours walking. I can testify from experience that the name restless legs syndrome, though sounding trivial, does accurately describe the nature of the affliction. Legs, and sometimes arms, demand to be moved.
People with RLS have employed many words in their attempts to relay their unusual discomfort: "prickly," "jittery," "pulling," "an electrical feeling," "pressure building up," "fidgety," "like thousands of ants crawling inside," "heebie-jeebies," "a deep ache in the bones," "as though a very large spring was coiled inside my legs," "like a cramp that does not fully develop." The character Kramer on the TV sitcom Seinfeld said his girlfriend had "jimmy legs," which is probably another way of describing RLS. A psychiatrist with RLS described the sensation as "ineffable," adding, "It's like an itch that you can't scratch," which gives added force to the aphorism that "the severity of an itch is inversely proportional to the ability to reach it."
Since RLS is treatable, though not yet curable, the only way for Kramer's girlfriend to obtain relief is through medication or movement. If she is like most RLS sufferers, her symptoms fluctuate, and she seeks comfort by walking, stretching, rocking, or riding an exercise bicycle.
Early Writing about RLS
Restless legs syndrome has been around for a long time. An early account of RLS appears in the essay "Of Experience" by French author Michel de Montaigne (1533-92):
That preacher is very much my friend who can oblige my attention a whole sermon through; in places of ceremony, where everyone's countenance is so starched, where I have seen the ladies keep even their eyes so fixed, I could never order it so, that some part or other of me did not lash out; so that though I was seated, I was never settled. As the philosopher Chrysippus' maid said of her master, that he was only drunk in his legs, for it was his custom to be always kicking them about in what place soever he sat; and she said it, when the wine having made all his companions drunk, he found no alteration in himself at all; it may have been said of me from my infancy that I had either folly or quicksilver in my feet, so much stirring and unsettledness there is in them, wherever they are placed.
A British physician, Sir Thomas Willis, was the first medical observer to describe what appears to have been both RLS and PLM:
Wherefore to some, when being a-Bed they betake themselves to sleep, presently in the Arms and Legs, Leapings and Contractions of the Tendons, and so great a Restlessness and Tossings of other Members ensue, that the diseased are no more able to sleep, than if they were in a Place of the greatest Torture.
This account was published in The London Practice of Physick in 1683. Note that Willis includes arms in his description. For most people, it's legs that cause discomfort, but scientists prefer the word limb because arms can also be involved. An unfortunate small minority of victims suffer from full-body akathisia, which is "a condition of motor restlessness in which there is a feeling of muscular quivering, an urge to move about constantly, and an inability to sit still."
The groundbreaking RLS medical study was done by Karl A. Ekbom, a Swedish neurologist, in 1945. In a systematic and comprehensive report, he defined the clinical features of the syndrome, including familial component, epidemiology, and therapy. After his pioneering research, the disease became known in some circles as Ekbom's syndrome. While in some countries, such as England, the name is still used, it was the brilliant doctor himself who coined "restless legs syndrome," and that name stuck.
In the nearly three hundred years between the Willis observation and the clinical studies by Ekbom and others, those who wrote about RLS tended to identify it as a "hysterical" condition. Until well into the twentieth century, RLS was labeled anxietas tibiarum, or anxious legs. Only more recently have neurologists begun to realize that we are dealing with a disease of the central nervous system, not a neurosis.
What Causes RLS?
Research into the causes of RLS is ongoing but so far has not pinpointed the mechanism underlying the disease. In other words, RLS has no identifiable origin, as, for example, influenza does. It may be that RLS is a final common pathway for multiple causes and mechanisms. Or it may be that victims have an underlying vulnerability that develops in the presence of one or more precipitating factors.
The word cause is used here in a loose fashion to mean something that appears to cause or trigger the disagreeable symptoms of RLS.
In nearly half of all cases, RLS is familial, but it may be idiopathic (cause unknown) or related to another condition.
Primary RLS
Primary RLS very often includes a positive family history. Between one-third and one-half of RLS cases are transmitted in a pattern consistent with autosomal dominant traits. (Human traits, including an individual's eye color, hair color, or expression of certain diseases, result from the interaction of one gene inherited from the father and one gene from the mother. In autosomal dominant disorders, the presence of a single copy of a mutated gene may result in the disease. In other words, the mutated gene may dominate or "override" the instructions of the normal gene on the other chromosome, potentially leading to disease expression. Individuals with an autosomal dominant disease trait have a 50 percent risk of transmitting the mutated gene to their children.) There is also some evidence of a recessive inheritance, meaning that RLS cases can be transmitted by the less dominant, or recessive, gene. Primary RLS can also reflect a dopaminergic deficiency, which may result from a malfunction in the brain stem.
Secondary RLS
Features of secondary RLS are referred to as risk factors for RLS or as comorbid -- coexisting disease states or disorders that occur in conjunction with RLS. Examples include periodic limb movements (PLM), end-stage renal disease (ESRD), early-onset Parkinson's disease, venous insufficiency, diabetes, peripheral neuropathy, rheumatoid arthritis, fibromyalgia, lumbar radiculopathy, third-trimester pregnancy, iron-deficiency anemia, uremia, and attention-deficit/hyperactivity disorder (ADHD). There have been some reports of RLS symptoms resulting from deficiencies of vitamin B12, folate, and magnesium.
RLS can be induced by certain drugs, including all drugs that block the dopamine receptor -- including neuroleptics, many antiemetic or antinausea drugs, and metoclopramide (Reglan) -- as well as tricyclic antidepressants, selective serotonin reuptake inhibitors, and lithium. Alcohol and caffeine use can also trigger restless legs syndrome.
Another trigger appears to be physical trauma. No formal research supports this conclusion, but anecdotal evidence is strong. For example, my own experience, and that of many other people with RLS, leads me to believe that the disease occasionally follows or is at least exacerbated by operations, accidents, or other sorts of insults to the body and brain. In my case it was a radical prostatectomy. Others have reported that RLS was brought on or worsened by an accident.
So should I blame the onset of my RLS on the trauma of the operation itself? Or should I blame the use of Elavil afterward, since nearly all antidepressants are contraindicated for RLS victims? Or was it the accumulation of metabolites in the legs from venous congestion -- a possible trigger of RLS, according to Ekbom? (I was hurled back into bed and given a blood thinner on what was to have been the day of my discharge. Dangerous blood clots were discovered in the deep vein of my right leg.) The RLS might have been worsened by the trauma of the operation or by the damaged veins, iron deficiency from blood loss, or either all, or none, of the above.
Other triggers guilty of worsening preexisting mild RLS include arthritis of the lumbar region, and spinal surgery. The most common link, according to Dr. Mark Buchfuhrer, of the former Gallatin Medical Clinic in Downey, California, "seems to be with lumbar laminectomy surgery (possibly due to the fact that this is one of the most common back surgeries), but even cervical (neck) surgery seems to be a not uncommon trigger of this type of RLS."
"The differential diagnosis of RLS is usually uncomplicated," Dr. John Winkelman, medical director of the Sleep Health Center at Brigham and Women's Hospital in Boston and former member of the RLS Foundation Medical Advisory Board, wrote in a November 1999 article in Nephrology News & Issues magazine:
Some forms of peripheral neuropathy are the most difficult disorders to distinguish from RLS, and in fact the two not infrequently coexist. Painful neuropathy is often a "burning" superficial dysesthesia which is usually unaffected by movement...
