Table of Contents
ContentsIntroduction
1. Yes, It is a Real Disease
2. Eighteen Years: The Misdiagnosis of RLS
3. Do I Have RLS?
4. Sleep and How to Get More of It
5. Medical Help
6. More Sources of Help
7. Coping
8. Special Challenges
9. Hope
Notes
RLS Milestones
Glossary
Appendix A: Resources
Appendix B: Support Groups
Appendix C: Physicians and Researchers
Appendix D: Health care Providers
Appendix E: Medical Endorsements
Acknowledgments
Index
Read an Excerpt
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. Apsychiatrist 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, whereas RLS is more often a "crampy" deep-seated feeling which is relieved by movement. Both can worsen in the evening and night.
Patients with both disorders can be taught to distinguish the two types of discomfort, which can be helpful to the treating physician. Other disorders in the differential include pruritus (which can produce abnormal sensations with restlessness and sleep loss), anxiety, and akathisia (inner restlessness caused by dopaminergic blockers or antagonists).
In his search for the cause of his RLS, Leonard J. Uttal, of Blacksburg, Virginia, believes that he "hit the jackpot."
After trying to get other doctors interested in my RLS, I sought a neurologist with geriatric and psychiatric qualifications on the combined advice from the RLS Foundation and AARP. This gentleman of a doctor spent three hours with me, performed neurological tests, and furnished me with reprints from the literature. He is most conversant with peripheral neuropathy, of which I have a "moderately severe" case and which often is associated with RLS symptoms. Also, together we dug out injuries to my legs I suffered over fifty years ago as a possible cause. Also, since I had heart bypass surgery a year and a half ago, an interrupted blood supply can be a cause, as can some medications. He plans to evaluate everything to try to pinpoint why I have RLS and work from there on. He plans to work with my internist who controls my medications to try to get me off as many as possible. For the first time I feel I am on track, in no small measure due to the RLS Foundation and AARP.
A Soldier's Tale
I was an infantry platoon commander in the Marine Corps. I was twenty-three years old, a lieutenant. Often my platoon would come back from patrols exhausted. We hadn't slept for days. The others would fall asleep on the ground, but I'd be there wiggling around with my restless legs forcing me to stay awake. Sometimes I could doze for maybe half an hour. I never got real sleep. I remember ambush situations where we had to lie there and not move. My life, and the lives of the guys with me, depended on it. My legs desperately needed to move but even the slightest motion could betray our position. It was torture.
This Vietnam veteran, Barry Kowalski, had symptoms of RLS as a child, but they were mild and intermittent. Restless legs syndrome typically worsens with age, and this was certainly the case for this soldier. By the time he was in his early twenties, the RLS was appearing almost nightly and he was forced to seek medical help.
Kowalski turned to several doctors, none of whom were very familiar -- if at all -- with this disease. Together they experimented with various medications, some of which provided temporary relief. Eventually he would develop a tolerance to the medication and need to take an increased dosage.
Unfortunately, Kowalski's difficulty in finding effective treatment was typical, since at this time very few doctors had even heard of RLS. Indeed, twenty years passed before Kowalski learned that his problem was compounded by PLM, a related disease that causes legs to twitch or jerk about every thirty seconds or so.
Lieutenant Kowalski later became lawyer Kowalski and gained national attention as a prosecutor on the Rodney King case, working for the Civil Rights Division of the Justice Department. In the spring of 1992, after the Los Angeles riots, he went to L.A. to prepare the federal trial.
When I went out to Los Angeles, I knew that my disease had a name, but I hadn't found a drug that helped much. I never got enough sleep. I was in agony from being so tired. Because of RLS, I usually wouldn't get to sleep until three in the morning. And I had to get up at six because of the heavy workload. That went on for months. Then came the trial and another two months of stultifying fatigue. Those were tense times, and I was totally exhausted when the trial was over. It was a year of hell. When I gave the closing argument in the case, I remember thinking very vividly that I had had only four hours of sleep in the past two days.
In a recent interview, more than ten years after the Rodney King trial, Kowalski said that the intervening years had been bad, not only because of RLS and PLM but because he was still "badly hooked on Klonopin." He stayed on a low dose of the drug because "if I cut it out altogether, I got powerful withdrawal symptoms."
As of this writing, Barry Kowalski takes a potion prescribed by a psychiatric pharmacologist who is learning about RLS. "Now I sleep well, but only after a struggle to get to sleep." Although not cured, he is much better off than he was. As word spreads about RLS, and as treatments continue to improve, it is unlikely that future victims will spend so many difficult years struggling for relief from this trivial-sounding yet serious disease.
How Common Is It?
How many people have RLS? Medically, RLS is considered a "common" disorder, as well as an epidemic, since it affects 7 to 15 percent of the northern European and U.S. population. Obtaining precise figures is difficult for a variety of reasons, particularly because a lack of research funds makes undertaking a large epidemiologic study impossible. Suffice to say, though, at least 12 million and up to 40 million Americans suffer from RLS -- numbers that are far higher than those for widely known diseases such as diabetes and Parkinson's.
Periodic limb movements (PLM) often coexists with RLS but is a separate affliction that involves leg twitches or jerks that occur about every twenty to forty seconds. PLM is used to describe periodic movement of the limbs while awake or sleeping, and usually in conjunction with RLS. This is not to be confused with PLMS, which is repeated stereotypic movements of the limbs (usually the legs) that occur during sleep. Both are independent of PLMD, or periodic limb movement disorder. The diagnosis of PLMD is made by polysomnography with electromyographic (EMG) recordings from the tibialis anterior muscles. The severity of PLMD is determined by the periodic limb movement index (PLMI), which equals the number of periodic limb movements per hour of sleep. Mild PLMD is defined as 5-25 periodic limb movements per hour of sleep; moderate as 25-50 periodic limb movements per hour of sleep; and severe as more than 50 periodic limb movements per hour of sleep or greater than 25 periodic limb movements associated with arousals per hour of sleep.
The limb movements of PLM are easily measured with monitors; RLS, however, cannot be confirmed by laboratory tests, thus adding to the difficulty of establishing a precise prevalence rate. While RLS keeps people from sleeping at all, PLM keeps people from having sound sleep. According to Dr. Daniel Picchietti, medical director of the Carle Clinic in Urbana, Illinois, "It's a double whammy. RLS affects the quantity of sleep while PLM affects the quality of sleep."
Earlier prevalence studies suffered not only from inadequate funding but also from their dependence on patients' subjective answers to questions. Further, the studies often used minimum frequency criteria, which failed to include many mild, intermittent sufferers.
Here is what we know about the numbers when we extrapolate from available statistics: In the United States and Canada (and probably elsewhere, judging from studies in Italy, Germany, and the United Kingdom), at least 3 percent of adults are fatigued daily by RLS and PLM and face each night with fear and despair. They must walk into the night, perhaps until daybreak, to rid themselves of intolerable sensations.
Stanford University researchers led by Dr. William C. Dement, former chair of the National Committee on Sleep Disorders and President of the American Sleep Disorders Association, and Dr. Clete Kushida, chair of the Standards of Practice Committee, American Academy of Sleep Medicine, were startled to see the results of a 1997-98 study they conducted in Moscow, Idaho. It showed that 29.3 percent of the population has symptoms similar to RLS. Intrigued, researchers launched a new study where the RLS prevalence was reported at a more reasonable 15.3 percent.
The National Sleep Foundation conducted a poll in 2005. It found that 25 percent of adults experienced "unpleasant feelings in their legs (such as creepy-crawly or tingling sensations) a few nights a month or more, 15 percent a few nights a week or more," and 8 percent reported these symptoms every night or almost every night. Half of those who described symptoms said they couldn't get a good night's sleep. Nearly 25 percent of respondents over the age of sixty-five reported having symptoms of RLS. A mere 3 percent of those with symptoms said their doctor had told them they had RLS.
The previous NSF polls in 1999, 2000, 2001, 2002, and 2003 had reported almost identical findings, with 57 percent of respondents saying that symptoms kept them from sleeping; only 2 percent were told by a physician that they had RLS.
Restless legs syndrome can seriously disturb daily activities. This fact, and the profound underdiagnosis rate, have recently been confirmed by the largest multinational study to date. The REST (RLS, Epidemiology, Symptoms and Treatment) Study in Primary Care showed that more than half of RLS sufferers (estimated to be one in thirty of all patients seen by the primary care doctors) reported a lack of energy, disturbance of daily activities, difficulty sitting or relaxing, and a tendency to feel depressed or down. One-third of the sufferers said RLS symptoms had a high negative impact on their quality of life, while two-thirds said they had some negative impact.
Many beleaguered nightwalkers, compelled to move, are deprived of sleep every night. Absent proper medical care, the severely afflicted are discouraged and always fatigued. They are also lonely. Yet, in the care of an informed doctor, nearly all would experience some relief. This was the case for a retired aircraft machinist who had struggled with RLS -- although he didn't know it as that -- for more than twenty years.
"I'm at the edge of a cliff," he told Dr. Philip Becker, president of Sleep Medicine Associates of Texas, "and I'm ready to go over." Sometimes he walked twenty hours a day. Because of worsening RLS, he was able to sleep only three or four hours at daybreak. His suffering was greatly increased because of two heart bypass operations and three joint replacements. He was also taking medications for diabetes and high blood pressure. Other ailments included sleep apnea and mild peripheral neuropathy that caused numbness in his feet. Hoping to alleviate the machinist's severe depression, a family doctor had given him an antidepressant, but as is so often the case with these drugs, it made his RLS worse.
Dr. Becker was able to turn this patient's life around. After a year's treatment, the man was on a new drug, off the antidepressant, and sleeping six or seven hours a night. Dr. Becker may well have saved his desperate patient's life.
As yet Dr. Becker's expertise is not shared by all physicians, but awareness of restless legs syndrome is growing. With progress being made in education and research, many more nightwalkers can now hope to find understanding and, at last, relief.
Copyright © 2006 by Robert H. Yoakum
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