Prevalence of restless legs syndrome in a rural community in Japan

To assess the prevalence and clinical significance of restless legs syndrome (RLS) in a Japanese population, we carried out a community‐based survey in a rural area of Japan. We sent questionnaires requesting information on demographics, the Center for Epidemiological Studies Depression scale, the Short Form‐8, the Pittsburgh Sleep Quality Index, the National Institutes of Health/International RLS Study Group (IRLSSG) consensus questionnaire, and the IRLSSG severity scale for RLS (IRLS) to 5,528 eligible adult residents in the town of Daisen in the Tottori prefecture of Japan. Next, we performed telephone interviews to identify subjects with probable RLS. Of the 2,812 subjects (51.1%) who gave complete answers on the IRLSSG questionnaire, 50 (1.8%) were judged as RLS positive. The prevalence of RLS was significantly higher in women than in men, and significantly lower in individuals 60 years of age or older. Multiple logistic regression analysis revealed that the existence of RLS was significantly associated with depression, lowered mental quality of life, and sleep disturbances. The prevalence of RLS in adult Japanese populations may be lower than that reported in Caucasian populations. However, in a group of Japanese subjects, RLS had a significant impact on daytime functioning as well as subjective sleep quality. © 2008 Movement Disorder Society     

Sleep disturbances in patients with Parkinson disease

Sleep disturbances are among the most common disabling nonmotor symptoms of Parkinson disease (PD). Recently, awareness of sleep disorders related to PD has increased, reflecting their significant negative impact on the quality of life of the patient. However, sleep disturbances are still often under-recognized. In PD, multiple factors are associated with sleep disturbances; impaired arousal systems and sleep structure as disease-related changes, nocturnal motor symptoms, hallucinations and psychosis, pain, nocturia, depressive symptoms and dopaminergic medication can all cause insomnia. Further, these factors can coexist and influence each other during the course of the disease. In addition, sleep-related breathing disorder, restless legs syndrome (RLS) and rapid eye movement sleep behavior disorder (RBD) can also lead to impaired sleep. Some idiopathic RBD patients have been associated with a risk for developing neurodegenerative diseases, including PD. Therefore, early diagnosis of RBD may have significant clinical implications for neuroprotective strategies. Several studies have revealed an increased incidence of RLS in PD patients compared to the general population. The favorable responses to dopaminergic medications in treating both RLS and PD suggest shared pathophysiologies between the two diseases; however, neuroimaging studies of dopaminergic systems remain inconclusive. In this review, we discuss the current understanding of sleep disturbances in PD and the existing treatments.     

Restless legs syndrome after high-risk TIA and minor stroke: association with reduced quality of life

BackgroundRestless legs syndrome (RLS) is a movement disorder that is associated with poor quality of life and depressive symptoms in the general population. Emerging evidence suggests that RLS is closely associated with cerebrovascular disease. We assessed the effect of RLS on quality of life after stroke and transient ischemic attack (TIA).MethodsIn this single-center prospective study, we recruited patients within 14 days of high-risk TIA or minor stroke. Patients were diagnosed with RLS using a questionnaire based on the 2003 International RLS Study Group criteria, and diagnoses were confirmed by a sleep neurologist. Follow-up assessments were conducted within 2–6 months of recruitment. The outcome of quality of life was measured using the Stroke-specific Quality of Life (SS-QoL).ResultsOf the 94 patients recruited into the study, 23 (24.4%) were diagnosed with RLS: 11 were newly diagnosed with RLS and 12 had RLS preceding the index stroke/TIA. There were no significant differences in baseline characteristics between those with or without RLS. Median SS-QoL in patients with RLS was lower at baseline (p = 0.008) and at follow-up (p = 0.002). RLS patients had more depressive symptoms at follow-up (p = 0.007). Ordinal logistic regression demonstrated that RLS was negatively associated with quality of life at baseline (OR = 0.28; p = 0.010) and at follow-up (OR = 0.14; p = 0.029), independent of functional outcome and depressive symptoms.ConclusionsRLS is common after stroke or TIA and negatively affects the quality of life. Screening for RLS after cerebrovascular events may be warranted, and future research should assess whether treatment of RLS can improve post-stroke quality of life.     

Sensory symptoms in restless legs syndrome: the enigma of pain

Restless legs syndrome (RLS) is a common sensorimotor condition characterized by an urge to move the legs, worsening of symptoms at rest and during the evening/night, and improvement of symptoms with movement. Our review explores the role and impact of sensory symptoms in RLS. The phenomenology of RLS is discussed, highlighting the difficulty patients have in describing their sensations and in differentiating between sensory and motor symptoms. Sensory symptoms have a significant impact on quality of life but remain much less well understood than motor symptoms and sleep disturbances in RLS. Although RLS symptoms usually are not described as painful, sensory manifestations in RLS do share some similarities with chronic pain sensations, and RLS frequently occurs in chronic pain and neuropathic conditions. Peripheral neuropathies may account for some of the sensory disturbances in secondary RLS, while alterations in central somatosensory processing may be a more viable explanation for the sensory disturbances in primary RLS. The effectiveness of analgesics in treating RLS supports the concept of abnormal sensory modulation in RLS and suggests an overlap between pain modulatory pathways and sensory disturbances. Future studies are needed to better understand the experiential and biologic aspects of altered sensory experiences in RLS.     

Prevalence of restless legs syndrome among adults in Iceland and Sweden: Lung function, comorbidity, ferritin, biomarkers and quality of life

ObjectiveThis study investigates the prevalence and the association between restless legs syndrome (RLS) and a large variety of health variables in two well-characterized random samples from the general population in Reykjavik, Iceland, and Uppsala, Sweden.MethodsUsing the national registries of inhabitants, a random sample from adults aged 40 and over living in Reykjavík, Iceland (n = 939), and Uppsala, Sweden (n = 998), were invited to participate in a study on the prevalence of COPD (response rate 81.1% and 62.2%). In addition, the participants were asked to answer the following questionnaires: International RLS Rating Scale, Short Form-12, the Epworth Sleepiness Scale, and questions about sleep, gastroeosophageal reflux, diabetes and hypertension, as well as pharmacological treatment. Interleukin-6 (IL-6), C-reactive protein (CRP) and ferritin were measured in serum.ResultsRLS was more commonly reported in Reykjavik (18.3%) than in Uppsala (11.5%). Icelandic women reported RLS almost twice as often as Swedish women (24.4 vs. 13.9% p = 0.001), but there was no difference in prevalence of RLS between Icelandic and Swedish men. RLS was strongly associated with sleep disturbances and excessive daytime sleepiness. Subjects with RLS were more likely to be ex- and current smokers than subjects without RLS (p < 0.001). Respiratory symptoms and airway obstruction were more prevalent among those reporting RLS and they also estimated their physical quality of life lower than those without RLS (p < 0.001). RLS was not associated with symptoms of the metabolic syndrome like hypertension, obesity, markers of systemic inflammation (IL-6 and CRP) or cardiovascular diseases. Ferritin levels were significantly lower in RLS participants (p = 0.0002), but not (p = 0.07) after adjustment for center, age, sex and smoking history.ConclusionRestless legs syndrome was twice as common among Icelandic women compared to Swedish women. No such difference was seen for men. RLS was strongly associated with smoking and respiratory symptoms, decreased lung function, sleep disturbances, excessive daytime sleepiness, and physical aspects of life quality. RLS was not associated with markers of the metabolic syndrome like hypertension, obesity, cardiovascular diseases or biomarkers of systemic inflammation.     

Levodopa for idiopathic restless legs syndrome: evidence-based review.

Restless legs syndrome (RLS) is a sensory motor disorder characterized by a distressing urge to move the legs and sometimes also other parts of the body usually accompanied by a marked sense of discomfort or pain in the leg or other affected body part. The prevalence of RLS is estimated at 2.7 to 5% of adults and it is more common in women. The treatment of RLS with levodopa has been reported thus a systematic synthesis of evidence is necessary to evaluate the effectiveness and safety of levodopa for RLS. Systematic review of randomized or quasi-randomized, double blind trials on levodopa. Relief of restless legs symptoms marked on a validated scale, subjective sleep quality, sleep quality measured by night polysomnography and actigraphy, quality of life measured by subjective measures, adverse events associated with the treatments. Nine eligible clinical trials were included. The subjective analyses of these studies showed contradictory results, although the objective analyses showed that treatment group had a statistically significant improvement of periodic leg movement (PLM) index, favoring the treatment group. The most commonly adverse event seen was gastrointestinal symptoms. The short-term treatment with levodopa was demonstrated effective and safety for PLM, but there was only few trials assessing long-term treatment and the augmentation phenomenon in RLS. Further long-term randomized controlled trials using standard follow-up measurements as the International RLS Study Group Rating Scale are necessary.     

The pharmacological treatment for uremic restless legs syndrome: Evidence‐based review

Restless legs syndrome (RLS) is a common and often misdiagnosed entity among the general population and it may be more common among dialysis patients, with an estimated prevalence of 6.6 to 21.5%. The treatment for uremic RLS has been controversial and therefore a systematic synthesis of the evidence is needed in order to evaluate the effectiveness and safety of treatments for uremic RLS. This was a systematic review of randomized or quasi‐randomized double‐blind trials on treatments for uremic RLS. The outcomes considered were relief of RLS symptoms marked on a validated scale, subjective sleep quality, sleep quality measured using night polysomnography and actigraphy, quality of life measured subjectively, and adverse events associated with these treatments. Six eligible clinical trials were included. The results from subjective analyses in these studies were divergent, although objective analyses in one trial showed that there was a statistically significant improvement in periodic leg movement while asleep in the treatment group. No combined analysis (meta‐analysis) was performed. The most common adverse event seen was gastrointestinal symptoms. Only a few therapeutic trials on patients with uremia with RLS have been published, and there is insufficient scientific evidence to favor any specific therapeutic regimen for uremic‐associated RLS. Therapy using levodopa, dopaminergic agonists, anticonvulsants, and clonidine tend to be effective, but further studies are needed. © 2010 Movement Disorder Society     

Impact of sleep-related complaints on depressive symptoms in patients with restless legs syndrome

OBJECTIVE: Restless legs syndrome (RLS) is a distressing sensorimotor disorder with a 5% to 10% prevalence in the United States and Western Europe. The nocturnal occurrence of symptoms often leads to severe sleep disturbances. RLS has been reported to be associated with depression and anxiety. The aim of the present study was to investigate the relationship between RLS symptom severity, sleep disturbances, and depressive symptoms. METHOD: Questionnaire data from 100 consecutive patients with idiopathic RLS who had been investigated in our Sleep Disorders Unit from April 1999 to December 2004 were evaluated. Patients were untreated regarding RLS, depression, or sleep disturbances. Severity of RLS was assessed with the International RLS Study Group rating scale (IRLS). Depressive symptoms and subjective sleep quality were determined using the Beck Depression Inventory (BDI) and the Pittsburgh Sleep Quality Index (PSQI), respectively. RESULTS: IRLS scores indicated moderate-to-severe RLS symptoms in the population studied (mean +/- SD IRLS score = 23.6 +/- 6.7). The mean +/- SD BDI score was 9.3 +/- 5.6, with highest values on the "reduced sleep," "loss of energy," and "work difficulties" items, indicating predominating somatic symptoms of depression. Fourteen patients had a BDI score of 15 to 20 ("mild depression"), and 3 patients had a BDI score of 20 to 30 ("mild to moderate depression"). Overall, patients estimated their sleep quality as moderately impaired (mean +/- SD PSQI score = 10.9 +/- 3.7). Severity of RLS correlated with the impairment of subjective sleep quality (r = 0.281, p = .007) but not with self-rated depressive symptoms (r = 0.119, p = .237). CONCLUSION: RLS patients scored high on the somatic items of the BDI, particularly on those related to sleep disturbance, but not on the other items that mostly address cognitive symptoms. Our results indicate that RLS might be associated with some features of depression but not with the full spectrum of a depressive disorder. The relationship between the 2 disorders should be investigated in further studies.     

The biopsychosocial effects of restless legs syndrome (RLS)

The symptoms of restless legs syndrome (RLS) are associated with reductions in patients’ quality of life (QoL) and mental heath. Sleep disturbance, which is often the most troublesome symptom of RLS, may have a negative impact on patients’ daytime cognitive abilities. Research has established a relationship between the symptoms of RLS and mood symptoms, but causality is unclear. Some studies have indicated that the symptoms of RLS precede those of depression or anxiety, and others relate the severity of mood symptoms to the severity of RLS symptoms. Associations between the sleep disturbance produced by RLS and patients’ mood symptoms have also been demonstrated. The impact of RLS symptoms and their treatment on QoL, mental health, and cognition are reviewed herein.     

Prevalence of restless legs syndrome and periodic limb movement disorder in the general population

BACKGROUND: Periodic limb movement disorder (PLMD) and restless legs syndrome (RLS) are two sleep disorders characterized by abnormal leg movements and are responsible for deterioration in sleep quality. However, the prevalence of these disorders is not well known in the general population. This study aims to document the prevalence of RLS and PLMD in the general population and to identify factors associated with these conditions. METHODS: Cross-sectional studies were performed in the UK, Germany, Italy, Portugal and Spain. Overall, 18,980 subjects aged 15 to 100 years old representative of the general population of these five European countries underwent telephone interviews with the Sleep-EVAL system. A section of the questionnaire assessed leg symptoms during sleep. The diagnoses of PLMD and RLS were based on the minimal criteria provided by the International Classification of Sleep Disorders. RESULTS: The prevalence of PLMD was 3.9% and RLS was 5.5%. RLS and PLMD were higher in women than in men. The prevalence of RLS significantly increased with age. In multivariate models, being a woman, the presence of musculoskeletal disease, heart disease, obstructive sleep apnea syndrome, cataplexy, doing physical activities close to bedtime and the presence of a mental disorder were significantly associated with both disorders. Factors specific to PLMD were: being a shift or night worker, snoring, daily coffee intake, use of hypnotics and stress. Factors solely associated with RLS were: advanced age, obesity, hypertension, loud snoring, drinking at least three alcoholic beverages per day, smoking more than 20 cigarettes per day and use of SSRI. CONCLUSIONS: PLMD and RLS are prevalent in the general population. Both conditions are associated with several physical and mental disorders and may negatively impact sleep. Greater recognition of these sleep disorders is needed.     

Épidémiologie du syndrome des jambes sans repos

IntroductionRestless legs syndrome (RLS) is a chronic sensorimotor disorder where patients complain of an almost irresistible urge to move their legs. This urge can often be accompanied by pain or other unpleasant sensations, it either occurs or worsens with rest particularly at night, and improves with activity. The International Restless Legs Syndrome Study Group has established four essential criteria for clinical diagnosis of RLS.State of artAffecting an estimated 7.2 to 11.5% of the adult population, the symptoms of RLS may be associated with significant sleep disturbance and may have a negative impact on quality of life. The prevalence of RLS increases with age, and women are more frequently affected than men. In France, the estimated prevalence is 8.5%. Among sufferers, 4.4% complain of very severe symptoms. Although RLS is mainly idiopathic, several clinical conditions have been associated with it, especially iron deficiency with or without anemia, end-stage renal disease and pregnancy. These conditions may share a common pathophysiological mechanism involving a disorder of iron metabolism. By contrast, controversy persists as to whether polyneuropathy, particularly when associated with diabetes, is to be considered as an important cause of secondary RLS. This association is difficult to demonstrate as conventional electromyography is not adequate to detect small fiber neuropathy often associated with diabetes.Conclusion and perspectivesRLS is often underdiagnosed and few subjects receive recommended RLS drug treatment. There is a clear need for complementary education to improve the accurate diagnosis of RLS. Indeed, better knowledge of this syndrome is a prerequisite to prompt an appropriate therapeutic management.     

The weight of evidence for ropinirole in restless legs syndrome

Evidence-based guidelines consider dopaminergic therapy to be the mainstay of treatment for restless legs syndrome (RLS). l -dopa has been shown to reduce RLS symptoms, but subsequent augmentation of symptoms occurs in up to 73% of patients during continued treatment. The ergot-derived dopamine agonist pergolide has been shown to be effective in small, open or placebo-controlled studies, but there have been reports of pleuropulmonary or cardiac valvular disease with this ergoline agent. Amongst the non-ergoline dopamine agonists, pramipexole has been reported to reduce RLS symptoms, but robust trial data are limited. By contrast, the RLS clinical trial programme with ropinirole is the largest published to date. This programme includes 12-week randomized double-blind placebo-controlled studies and a 36-week maintenance-of-effect study. Data from the placebo-controlled studies show that ropinirole, 0.25–4.0 mg/day, produces rapid and significant reductions, compared with placebo, in the sensory and motor symptoms of RLS, and that these benefits are associated with significant improvements in sleep and quality of life. In addition, the maintenance study has shown that these benefits are maintained during longer-term treatment. Furthermore, ropinirole is generally well tolerated. Ropinirole thus represents a potential valuable approach to the management of RLS.     

Impact, diagnosis and treatment of restless legs syndrome (RLS) in a primary care population: the REST (RLS epidemiology, symptoms, and treatment) primary care study

OBJECTIVES: To assess the frequency, impact, and medical response to the restless legs syndrome (RLS) in a large multi-national primary care population. METHOD: Questionnaire surveys of matched patients and primary care physicians (PCPs) in five modern industrialized western countries. RESULTS: An RLS screening questionnaire was completed by 23,052 patients: 2223 (9.6%) reported weekly RLS symptoms; 1557 of these patients had medical follow-up questionnaires completed both by themselves and by their physician. An RLS sufferer subgroup (n=551) likely warranting treatment was defined as reporting at least twice weekly symptoms with appreciable negative impact on quality of life. A total of 88.4% of RLS sufferers reported at least one sleep-related symptom. Most reported impaired sleep consistent with a diagnosis of insomnia. Out of 551 sufferers, 357 (64.8%) reported consulting a physician about their RLS symptoms, but only 46 of these 357 (12.9%) reported having been given a diagnosis. PCPs reported that 209 (37.9%) RLS sufferers consulted them about RLS symptoms, but only 52 (24.9%) were given an RLS diagnosis. In most countries, sufferers, regardless of diagnosis, were prescribed therapies not known to be effective in RLS. CONCLUSIONS: RLS significantly impairs patients' lives, often by severely disrupting sleep. The marked under-diagnosis and inappropriate treatment of RLS indicates that PCPs need better education about this condition. Recognizing how often disrupted sleep results from RLS should improve diagnosis.     

Epidemiology of restless legs in the Netherlands

The prevalence of restless legs syndrome (RLS) in various regions in the world has been estimated between 2.5 and 29%. For The Netherlands these figures are not known. Our observational and cross-sectional study was performed to estimate the prevalence of RLS in The Netherlands. A cross-sectional survey by postal questionnaire was carried out through a general practice in a small town in which one general practice serves 93% of the population. All men and women aged 50 years and older were invited to fill out the questionnaire on leg movements, quality of sleep and daytime symptoms. A total of 1485 (88.2%) persons returned their questionnaire and 1437 (85.4%) patients answered the questions on leg movements. A total of 102 (7.1%) inhabitants answered positively to the questions on leg movements and probably have RLS. The prevalence was higher in women and increased with age. People who complain of RLS have significantly more complaints of disturbances in initiating and maintaining sleep, sleepiness, tiredness during the day and less refreshing sleep. RLS is common in The Netherlands with an estimated prevalence of 7.1% in the population over 50 years of age.     

Impact of home confinement during COVID-19 pandemic on sleep parameters in Parkinson's disease

BackgroundLiterature shows that home confinement during coronavirus disease 2019 (COVID-19) pandemic has significantly affected sleep. However, such information regarding subjects having Parkinson's disease (PD) is unavailable.MethodsThis cross-sectional study was conducted using a questionnaire, developed and validated by experts. PD subjects from nine centers across India were included. Questionnaire assessed presence as well as change in sleep-related parameters and PD symptoms during home confinement. Restless legs syndrome (RLS) and REM sleep behavior disorder (REMBD) was diagnosed using validated questionnaire. Additionally, changes in physical activity, adoption of new hobbies during home confinement and perceived quality of life were assessed.ResultsOf 832 subjects, 35.4% reported sleep disturbances. New-onset/worsening of sleep disturbances (NOWS) was reported by 23.9% subjects. Among those with sleep disturbances (n = 295), insomnia symptoms worsened in half (51.5%) and nearly one-fourth reported worsening of RLS (24.7%) and REMBD (22.7%) each. NOWS was common in subjects lacking adequate family support during home confinement (P = 0.03); home confinement > 60 days (P = 0.05) and duration of PD > 7 years (P = 0.008). Contrarily, physical activity >1 h/day and engagement in new hobbies during home confinement were associated with better sleep. NOWS was associated with worsening of motor as well as non-motor symptoms of PD (P < 0.001) and poorer life quality (P < 0.001).ConclusionHome confinement during COVID-19 pandemic was significantly associated with NOWS among PD subjects. NOWS was associated with global worsening of PD symptoms and poorer life quality. Physical activity >1 h/day and adoption of new hobbies during home confinement were associated with better sleep.     

Prevalence and clinical profile of restless legs syndrome in Parkinson's disease

Parkinson's disease (PD) and restless legs syndrome (RLS) have a dopaminergic link. More insight in the clinical profile of RLS in patients with PD may benefit our understanding of this link. The aims of this study were to evaluate the frequency and clinical profile of RLS in a large cohort of PD patients. In 269 nondemented Caucasian PD patients, the four diagnostic criteria for RLS were administered by a RLS trained researcher. In patients with definite RLS, the severity of these symptoms was assessed. Furthermore, in all patients, relevant motor and nonmotor symptoms in PD were evaluated. Definite RLS was present in 11% of the patients. RLS patients were more often female (69% vs. 32%, P < 0.001), but no other significant differences existed between PD patients with and without RLS. Within the PD patients with RLS, severity of RLS correlated positively with PD severity, motor fluctuations, depressive symptoms, daytime sleepiness, cognitive problems, autonomic symptoms, and psychotic symptoms. This study in a large PD cohort shows that prevalence of RLS is similar to that in the general population, which might be caused by underestimation of RLS due to dopaminergic treatment. No relations were found between the presence of RLS and PD symptoms, but the severity of RLS was related to the severity of PD‐related, mainly nondopaminergic, symptoms. It is hypothesized that, nondopaminergic systems, such as the noradrenergic system may play a role in the possible link between PD and RLS. © 2010 Movement Disorder Society     

Prevalence of restless legs syndrome: A community-based study from Argentina

Background and purposeThe number of restless legs syndrome (RLS) prevalence studies performed outside Europe and North America remains small. We conducted a community-based study to estimate the relative prevalence of RLS in Argentina.Patients and methodsA total sample of 471 participants from high (Buenos Aires) and low population density areas (three cities with <35,000 inhabitants), completed a self-assessment questionnaire, including the International Restless Legs Syndrome Study Group (IRLSSG) diagnostic criteria, to determine RLS symptoms.ResultsIn the present study, the four RLS criteria were reported in 20.2%. In accordance with other studies, we found a female/male ratio of 3:1, with women being younger than men. However, RLS prevalence in “clinically significant” participants, that is symptoms present at least two or more times a week, were 10.8% (12.4% in participants from high population density versus 2.60% in participants from low population density areas).ConclusionsIn the present study, RLS appears as a common disorder in this population. The RLS prevalence found is in agreement with some epidemiological reports from the American and European populations but it is significantly higher than the prevalence reported for Native South Americans (i.e., 0.8–3.2%). These differences could be explained by the composition of the Argentinean population with predominantly European roots. Taking into account the significant impact of RLS on health and quality of life, our study represents a preliminary approach to characterize this chronic disease in this community.     

Restless legs syndrome is frequently overlooked in patients being evaluated for polyneuropathies

Restless legs syndrome (RLS) often presents with paresthesias and dysesthesisas. We have investigated the prevalence and clinical features of RLS in a cohort of patients referred for clinical suspicion of peripheral neuropathy (PN). Sixty-four patients with sensory symptoms, and 101 age-matched controls were prospectively evaluated for RLS, PN and causes of both conditions. In the 64 patients (60 ± 14 years), none were referred with a suspicion of RLS. Forty-one had a sensori-motor PN of which 22 had a definite RLS (54%). When excluding other causes of RLS, 8 of 41 patients had a RLS associated with a neuropathy (20%). The proportion of RLS in the healthy controls was 10%, lower than in the cohort of patients. In patients without PN, 57% had a RLS, and 55% in the whole cohort, a higher proportion than in the healthy controls ( P  < 0.0001). Patients with PN and RLS had more sleep disorders ( P  < 0.04), and legs and calves symptoms ( P  = 0.09) than patients with PN without RLS. Toes symptoms were more frequently observed in patients with PN but without RLS ( P  < 0.02). We conclude that RLS frequently presents with symptoms suggestive of peripheral neuropathy, and therefore, is often overlooked.     

Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey

To investigate the prevalence of fatigue, daytime sleepiness, reduced sleep quality, and restless legs syndrome (RLS) in a large cohort of patients with Charcot-Marie-Tooth disease (CMT) and their impact on health-related quality of life (HRQoL). Participants of a web-based survey answered the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, the Multidimensional Fatigue Inventory, and, if the diagnostic criteria of RLS were met, the International RLS Severity Scale. Diagnosis of RLS was affirmed in screen-positive patients by means of a standardized telephone interview. HRQoL was assessed by using the SF-36 questionnaire. Age- and sex-matched control subjects were recruited from waiting relatives of surgical outpatients. 227 adult self-reported CMT patients answered the above questionnaires, 42.9% were male, and 57.1% were female. Age ranged from 18 to 78 years. Compared to controls (n = 234), CMT patients reported significantly higher fatigue, a higher extent and prevalence of daytime sleepiness and worse sleep quality. Prevalence of RLS was 18.1% in CMT patients and 5.6% in controls (p = 0.001). RLS severity was correlated with worse sleep quality and reduced HRQoL. Women with CMT were affected more often and more severely by RLS than male patients. With regard to fatigue, sleep quality, daytime sleepiness, RLS prevalence, RLS severity, and HRQoL, we did not find significant differences between genetically distinct subtypes of CMT. HRQoL is reduced in CMT patients which may be due to fatigue, sleep-related symptoms, and RLS in particular. Since causative treatment for CMT is not available, sleep-related symptoms should be recognized and treated in order to improve quality of life.