Restless legs syndrome and nocturnal leg cramps: review and guide to diagnosis and treatment

Tipton, Philip W.; Wszołek, Zbigniew K.

doi:10.20452/pamw.4148

Cited by 10 publications

(3 citation statements)

References 39 publications

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“…It can occur on one side or both sides of the limbs, specifically in the lower limbs. The above limb discomfort symptoms are usually unbearable, forcing patients to move or massage their limbs to relieve the discomfort symptoms (1). The prevalence of RLS is approximately 0.1-15% (2)(3)(4).…”

Section: Introductionmentioning

confidence: 99%

Analysis of Serum Vitamin D Level and Related Factors in Patients With Restless Legs Syndrome

et al. 2021

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Objective: This study aimed to detect serum vitamin D (VitD) levels in patients with primary restless legs syndrome (RLS). The further objective was to analyze the relationship of VitD levels with the severity of RLS symptoms, sleep, anxiety, and depression.Methods: The serum 25-hydroxyvitamin D [25(OH)D] levels of 57 patients with primary RLS and the healthy physical examinees in our hospital during the same period were detected. The International Restless Legs Syndrome Study Group (IRLSSG) rating scale for measuring RLS severity and Pittsburgh Sleep Quality Index (PSQI) Scale, 24-item Hamilton Depression Rating Scale (HAMD24), and 14-item Hamilton Anxiety Scale (HAMA14) were used to assess the severity of symptoms, sleep, and emotional state of patients with RLS. Based on VitD level and IRLSSG score, they were grouped for analysis.Results: The serum 25(OH)D level was significantly lower in patients with RLS than in healthy controls, and the incidence of insufficient serum VitD levels was significantly higher in patients with RLS than in healthy people (both P < 0.05). The serum VitD level was significantly lower in (extremely) severe patients with RLS than in mild to moderate patients with RLS (P < 0.05). The IRLSSG scale score and HAMD24 score were significantly higher in patients with RLS with insufficient serum VitD levels than those with normal serum VitD levels (both P < 0.05). Correlation analysis of IRLSSG scale score with serum VitD level and each scale score in patients with RLS showed that IRLSSG scale score was negatively correlated with VitD level, but positively correlated with PSQI, HAMA14, and HAMD24 scores. The results of correlation analysis between serum VitD levels and each scale score in patients with RLS indicated that serum VitD levels were negatively correlated with IRLSSG scale scores, PSQI scores, and HAMD24 scores.Conclusion: The serum VitD level is generally lower in patients with RLS than in healthy people, and lower serum VitD level is associated with more severe symptoms of RLS, worse quality of sleep, and worse depression.

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Section: Introductionmentioning

confidence: 99%

Analysis of Serum Vitamin D Level and Related Factors in Patients With Restless Legs Syndrome

et al. 2021

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“…Nocturnal cramps in children manifest with sudden, involuntary and painful contractions usually involving the calf muscles accompanied by residual tenderness in the affected muscles and causing distress and sleep disruption. The pathophysiological mechanisms causing nocturnal leg cramps are diverse and encompass abnormal excitability and instability in the spinal anterior horn cells [34,35]. In our case, nocturnal paroxysmal posturing of the leg may be better explained by abnormal interhemispheric inhibition with unproper unilateral or bilateral CST wiring as observed in patients with MMs, ultimately leading to spinal anterior horn cells' activation.…”

Section: Discussionmentioning

confidence: 66%

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

Prato,

Cirnigliaro,

Maugeri

et al. 2024

JCM

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Background/Objectives: Pathogenic variants in the deleted in colorectal cancer gene (DCC), encoding the Netrin-1 receptor, may lead to mirror movements (MMs) associated with agenesis/dysgenesis of the corpus callosum (ACC) and cognitive and/or neuropsychiatric issues. The clinical phenotype is related to the biological function of DCC in the corpus callosum and corticospinal tract development as Netrin-1 is implicated in the guidance of developing axons toward the midline. We report on a child with a novel inherited, monoallelic, pathogenic variant in the DCC gene. Methods: Standardized measures and clinical scales were used to assess psychomotor development, communication and social skills, emotional and behavioural difficulties. MMs were measured via the Woods and Teuber classification. Exome sequencing was performed on affected and healthy family members. Results: The patient’s clinical presentation during infancy consisted of paroxysmal dystonic posturing when asleep, mimicking nocturnal leg cramps. A brain magnetic resonance imaging (MRI) showed complete ACC. He developed typical upper limb MMs during childhood and a progressively evolving neuro-phenotype with global development delay and behavioural problems. We found an intrafamilial clinical variability associated with DCC mutations: the proband’s father and uncle shared the same DCC variant, with a milder clinical phenotype. The atypical early clinical presentation of the present patient expands the clinical spectrum associated with DCC variants, especially those in the paediatric age. Conclusions: This study underlines the importance of in-depth genetic investigations in young children with ACC and highlights the need for further detailed analyses of early motor symptoms in infants with DCC mutations.

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“…Restless legs syndrome (RLS) is a musculoskeletal disorder characterized by an unpleasant sensation of the urge to move the lower limbs, occurring mainly in the evening and at night, at rest and disappearing with movement. It affects 7.2–24.1% of the population in Western countries [ 1 , 2 ] (in contrast to Asia, where the prevalence is estimated at 0.1–12% [ 3 , 4 , 5 , 6 , 7 ]), and is more common in women (2:1 in relation to men, probably due to a link between dopaminergic and estrogenic effects [ 8 , 9 ]), pregnant women, the elderly and patients with iron deficiency anemia or renal failure [ 10 ]. According to current knowledge, a primary role in the pathogenesis of RLS is attributed to dysfunction of the dopaminergic system, impaired iron metabolism (especially in the central nervous system) and, not least, genetic susceptibility (RLS is the first such common sleep disorder for which genome-wide association studies have been conducted and genetic risk loci identified [ 11 ]).…”

Section: Introductionmentioning

confidence: 99%

Is Restless Legs Syndrome De Facto Thyroid Disease?

et al. 2022

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While a primary role in the pathogenesis of restless legs syndrome (RLS) has been attributed to dysfunction of the dopaminergic system and impaired iron metabolism (particularly in the central nervous system), it has been hypothesized that an imbalance between thyroid hormones and dopaminergic activity may be the starting point for all aspects of RLS. Although this hypothesis was proposed more than a decade ago, it has not yet been verified beyond doubt. The main aim of this study is to compare the prevalence of RLS in a population of patients with the most common thyroid gland diseases with a population of individuals with a healthy thyroid gland. The study included 237 participants divided into smaller groups according to the thyroid disease concerning them. Each participant had a laboratory diagnosis, an ultrasound scan and an assessment of the fulfilment of RLS criteria according to the International Restless Legs Syndrome Study Group (IRLSSG) criteria. The results obtained were subjected to statistical analysis. RLS is significantly more common in patients with known thyroid disease; Hashimoto’s disease, among others, manifests a 2.56× higher risk of a positive diagnosis for RLS than the general population. The association of RLS with thyroid disease is notable, although it is difficult to conclude unequivocally that there is a cause-and-effect relationship between the two. Further investigation into a potentially autoimmune cause of restless legs syndrome should be considered.

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Restless legs syndrome and nocturnal leg cramps: review and guide to diagnosis and treatment

Cited by 10 publications

References 39 publications

Analysis of Serum Vitamin D Level and Related Factors in Patients With Restless Legs Syndrome

Analysis of Serum Vitamin D Level and Related Factors in Patients With Restless Legs Syndrome

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements

Is Restless Legs Syndrome De Facto Thyroid Disease?

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