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Restless Legs Syndrome, Genetic Testing

Restless legs syndrome (RLS) is a neurological disorder characterized by an uncontrollable desire to move the legs, often accompanied by unpleasant sensations. Symptoms usually worsen at rest or during the night. Treatment options include lifestyle changes, medications, and, in some cases, iron supplements. The assessment of the Polygenic Risk Score for restless legs syndrome is based on examining 24 gene polymorphisms.

Genetic testing for restless legs syndrome is included along with 15 other diseases in the Genetic Screening for Diseases of the Nervous System, Polygenic Risk Score.

Causes and non-genetic risk factors

The underlying cause is currently unknown. A genetic component has been described as more relevant, especially in early-onset symptoms. Research also suggests a disorder in the functioning of dopamine, a neurotransmitter that regulates movement, or its imbalance against serotonin. Additionally, in some of the cases, it also seems to be associated with other simultaneous pathologies:

  • Iron deficiency is probably related to alteration at the level of movement control by dopamine, which requires iron for correct functioning.
  • End-stage renal failure and hemodialysis can be associated with iron deficiency or anemia, as well as other biochemical abnormalities that can trigger or worsen restless legs syndrome.
  • Deficient blood circulation in the legs or muscle disorders.
  • Vitamin or mineral deficiencies.
  • Alcohol, nicotine, and caffeine consumption.
  • Pregnancy, especially in the last trimester, although in most cases, they disappear a few weeks after delivery.
  • Neuropathy (nerve damage) affecting the feet or hands.
  • Lack of sleep and other disturbances, such as apnea, may aggravate or trigger symptoms.
  • Certain drugs that may aggravate symptoms, such as those used to prevent nausea, antipsychotics, antidepressants that increase serotonin, or cold or allergy drugs containing antihistamines.

It can be triggered at any age but is most common in the fourth decade of life. The main symptom is the need to move the legs. It usually occurs on both sides of the body, and less frequently, these sensations occur in the arms and rarely in the chest or head. The sensations in the extremities are relieved by movement, such as stretching, shaking the legs, or walking. Symptoms often vary in intensity, even daily, and from person to person. Sometimes, they even disappear for periods, only to reappear later, although symptoms tend to become more severe over time.

Nocturnal leg spasms may accompany it at night. This may be associated with periodic limb movement disorder during sleep, which often coincides.

The sensations that occur are difficult to define and are usually described as tingling, tingling, pulling, throbbing, aching, itching, or electrical charge.


There are no specific measures available to prevent restless legs syndrome. However, lifestyle changes may help alleviate the symptoms of restless legs syndrome:

  • Establish good sleep hygiene by establishing a regular daily schedule of at least 7 hours in a calm, quiet, comfortable environment. Avoid large meals before bedtime, and allow at least 2 hours after dinner.
  • Moderate and regular physical exercise can alleviate symptoms. However, intense exercise or exercise close to sleeping hours may intensify them.
  • Avoid or reduce the caffeine in your daily diet, such as coffee or tea, and other foods like chocolate or cola.
  • Stop smoking and reduce alcohol consumption.
  • Relaxing the musculature with baths and warm water massages.
  • Using cold or heat or alternating between them in compresses can reduce the sensations in the extremities.
  • Reduce stress as much as possible. Try meditation, yoga, soft music, or other options.
  • Address possible causes contributing to restless legs syndrome, such as iron deficiency, use of related drugs, kidney function abnormalities, etc.
Additional information
Results Time4 - 5 Weeks
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