Rare Pediatrics News

Disease Profile

Restless legs syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Willis Ekbom disease; Restless leg syndrome

Summary

Restless legs syndrome (RLS) is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away, at least temporarily. Many people with restless legs syndrome also have uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45 and progresses slowly. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly. RLS likely results from a combination of genetic and environmental factors, many of which are unknown.[1][2] The syndrome may also be classified in several types (RLS1, RLS2, RLS3, RLS4, RLS5, RLS6, RLS7) according to the location in specific chromosomes of some of the genes that are associated with an increased risk (susceptibility) to have the syndrome.  Treatment is based on the signs and symptoms present in each person.[2]

Treatment

Treatment for restless legs syndrome (RLS) may involve medication and/or finding other ways to relieve symptoms. In some cases, treating an associated medical condition (such as diabetes or peripheral neuropathy) may be effective in controlling symptoms of RLS.[2]

Medications are usually helpful but no single medication is effective for all people with RLS. Therefore, trying different medications may be necessary. Common drugs prescribed to treat RLS include:[2]

  • Dopaminergic agents (drugs that increase dopamine, often used for Parkinson disease) have been shown to reduce symptoms of RLS when taken at bedtime and are considered the initial treatment of choice. However, long-term use can lead to worsening of symptoms, which is then reversible by stopping the medication
  • Benzodiazepines ("depressants" often used for anxiety, muscle spasms or insomnia) may help obtain a more restful sleep, but can sometimes cause daytime sleepiness
  • Opioids such as codeine, propoxyphene, or oxycodone may be prescribed at night to diminish pain and help with relaxation
  • Anticonvulsants can decrease the sensations such as creeping and crawling and nerve pain
  • The Relaxis pad an FDA-approved medical device that can be placed at the site of discomfort when in bed and provides 30 minutes of vibrations

The following non-pharmacologic therapies may help to relieve symptoms of RLS:[2]

  • For temporary relief: moving the affected limb(s); massaging the legs; taking a hot bath; or using a heating pad or ice pack
  • Making lifestyle changes such as decreasing the use of caffeine, alcohol, and tobacco; changing or maintaining a regular sleep pattern; getting moderate exercise
  • Taking supplements to correct deficiencies in iron, folate, and magnesium

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The Mayo Clinic Web site provides further information on Restless legs syndrome.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • MedlinePlus Genetics contains information on Restless legs syndrome. This website is maintained by the National Library of Medicine.
    • The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Restless legs syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

        References

        1. Restless legs syndrome. Genetics Home Reference. October, 2013; https://ghr.nlm.nih.gov/condition/restless-legs-syndrome.
        2. Restless Legs Syndrome Fact Sheet. National Institute of Neurological Disorders and Stroke. September 9, 2016; https://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm.

        Rare Pediatrics News