Restless legs syndrome (RLS) is also known as Willis-Ekbom disease. It occurs with the patient's urge or need to move the legs. It is also a chronic and progressive movement disorder in which abnormal sensations occur in the patient. Symptoms often appear before and during sleep.

Restless legs syndrome (RLS) is also known as Willis-Ekbom disease. It occurs with the patient’s urge or need to move the legs. It is also a chronic and progressive movement disorder in which abnormal sensations occur in the patient. Symptoms often appear before and during sleep. Due to the discomfort in these patients, it is expected that the patient will experience severe insomnia. From time to time, the patient may apply to the physician mainly with the complaint of insomnia. Recognition and treatment of Restless Legs Syndrome will also solve the patient’s insomnia problem.

Patients with Restless Legs Syndrome have difficulty in describing their experiences. They often express the desire to move their legs, which they cannot prevent, in the form of pain-burning-tingling, which is not very painful, but quite uncomfortable. This discomfort usually occurs at rest. In patients, this condition is often exacerbated at night and is usually arousing from sleep. Therefore, it leads to chronic sleep disorder and emotional stress. When diagnosed correctly, it can be treated with relief of symptoms and even cure can be provided in some secondary cases.

Why does Restless Leg Syndrome occur?

It has been proven that dopamine activity in the brain plays an important role in Restless Legs Syndrome. Dopaminergic activity increases in the morning and decreases in the early hours of the night. It has been determined that disorders in this dopamine activity pattern also cause Restless Legs Syndrome.

PET and SPECT studies have shown pre- and post-synaptic dopamine receptor abnormalities in the basal ganglia. In addition, PET studies reported a decrease in D2-receptor binding and mean dopa uptake in the caudate nucleus and putamen in these patients. It has been understood that this disease is a disease related to the central nervous system.

In addition, abnormalities in melatonin levels similar to dopamine were observed in these patients and melatonin was found to be associated with this disease. During the hours when the symptoms of Restless Leg Syndrome are most severe, melatonin levels also peak. Melatonin has also been described to have a suppressive effect on dopamine secretion.

What are the types of Restless Legs Syndrome?

Restless Legs Syndrome is of two types, primary and secondary, depending on the cause.

Primary Restless Legs Syndrome

In these patients, laboratory, neurological, neurophysiological, neuroradiological tests are normal and there is no other reason. This type accounts for 70-80% of all Restless Legs Syndrome diseases.

Genetic transmission is remarkable in these patients. It has been reported that the disease can be seen in the first degree relatives of these patients at a rate of approximately 50-70% and that women are more frequently transplanted. In this form, the disease starts at an earlier age, is usually diagnosed before the age of 45, and progresses quite slowly compared to the secondary forms.

Various studies have shown that genetic transmission is in an autosomal dominant manner, and it has been shown that there are abnormalities in chromosomes such as 12q, 14q, 9p, 2q and 20p, 19p.

Although there are primary forms of Restless Legs Syndrome seen without genetic transmission, genetic damage in these species may not be detected yet.

Secondary Restless Legs Syndrome

There are some diseases that cause Restless Leg Syndrome. The most common of these diseases are:

  • Iron deficiency
  • Pregnancy
  • End-stage renal disease
  • Type 2 Diabetes Mellitus
  • Rheumatological diseases

The common point of these health problems is iron metabolism disorder. Improvement or treatment of these clinical conditions can reduce the symptoms of Restless Legs Syndrome and, in some cases, provide complete remission.

Iron Deficiency: Studies have shown that brain iron concentrations play a key role in changing dopamine levels. Iron is necessary for dopamine synthesis and formation, and its deficiency impairs normal dopamine production. Iron is a cofactor of tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. Iron is required for the conversion of tyrosine to levodopa. Levodopa is decarboxylated to dopamine. It has been reported that up to 75% of patients with Restless Legs Syndrome may have iron deficiency. In another study, 62.5% of the patients had low serum iron levels, only 21% had anemia and 25% had low ferritin levels. , insomnia and paresthesias were observed significantly more frequently.

Pregnancy: Restless Legs Syndrome is the most common movement disorder in pregnancy. It has been reported that 11-27% of pregnant women have Restless Legs Syndrome, most commonly in the third trimester. Symptoms usually regress within a month after the pregnancy is terminated.

Kidney Failure: It is one of the most well-known secondary causes associated with this disease. It is known that Restless Legs Syndrome is seen more frequently in patients with renal failure compared to the general population.

Diabetes Mellitus Type 2 : DM type 2 is one of the endocrine diseases with an increased frequency of Restless Legs Syndrome. Studies have reported that it can be seen in 17-27% of diabetic patients.

Rheumatological Diseases: RLS; It is observed more frequently in some rheumatological diseases such as rheumatoid arthritis (RA), Sjögren’s Syndrome (SjS) compared to the normal population. In addition, patients with RLS may also experience extremity and joint pain. Previously, pain was considered to be a symptom that excludes RLS, but in recent studies, it has been reported that more than 50% of patients describe pain as the primary component of their disorder. The prevalence of RLS increases with advanced age, where rheumatological diseases are more common. Painful syndromes are observed more frequently in most of the patients diagnosed with RLS. For example, low back pain was found in 38% of these patients, 50% of arthropathy, and 30% of soft tissue rheumatism.

Although Restless Legs Syndrome is seen with many rheumatic diseases, the best known is Rheumatoid Arthritis. In addition, it has been reported in 31%, 24% in SjS and 22% in scleroderma in patients with fibromyalgia syndrome (31).

Multiple Sclerosis (MS): Restless Legs Syndrome is seen in 32.7% of MS patients. Its frequency increases in the primary progressive form and leads to higher disability scores.

How Is Restless Legs Syndrome Diagnosed?

The diagnosis of restless legs syndrome is based on clinical history. Most patients have difficulty expressing their symptoms. Others describe their complaints in the form of burning in the legs, itching from the inside, stabbing-painful-creepy pain and the need to move, restlessness. The complexity of the symptoms and the difficulty to define make the diagnosis difficult. In elderly patients with an increased prevalence of the disease, accurate diagnosis becomes more difficult due to comorbidities, cognitive deficits and speech disorders. The disease is not sufficiently recognized by physicians, so patients with similar symptoms are often misdiagnosed as anxiety disorder, depression or sleep disorder.

In these patients, symptoms usually begin as a feeling of discomfort in one leg. In cases where the disease is severe, discomfort may be felt in other parts of the body such as both legs or hips, trunk, arms and even the face. However, in all cases, the legs are affected, and it is generally expected that the legs will be affected earlier and more severely than other areas. The feeling of discomfort in the legs begins with rest. While this discomfort is not evident at first, it becomes evident with the prolongation of the rest period. Symptoms may occur while sitting or lying down. There is no specific body position for the appearance or relief of complaints.

Not only physical rest, but also the inactivity of the brain causes the appearance of the disorder. For this reason, it is thought that activities such as puzzles and computer games that increase mental alertness during rest reduce complaints.

It is expected that the feeling of restlessness in the legs will go away with movement. Flexion-extension movements or stretching-rubbing maneuvers in the legs can be effective. However, symptoms often require getting out of bed and walking, and taking hot or cold baths. One study reported that 82% of patients benefited from heat exchange. Discomfort disappears with movement, but may reappear as soon as the resting state begins.

In severe RLS, there may be no relief with movement, and symptoms may persist for 24 hours. However, for a correct diagnosis, these patients should express that there is a period of relief with movement, at least at the onset of the disease.

Evaluation of Disease Severity: It is very important to be able to numerically determine the most disturbing symptom and the severity of the disease in Restless Legs Syndrome. A number of scales have been developed to objectively measure whether there is a need for treatment, which form of treatment is appropriate, and the response to treatment.

The diagnosis of RLS is based on clinical and history. Physical condition, locomotor system and neurological examinations are normal in Primary Restless Legs Syndrome. In addition, there are no objective tests to confirm the diagnosis. Therefore, laboratory tests, EMG, evoked potentials, or muscle biopsies are not diagnostically sensitive or specific. However, a number of diagnostic methods have been developed to support the diagnosis in suspicious cases.

In clinical practice, diagnostic tools such as polysomnography (PSG), “suggested immobilisation test” (SIT) and actigraphy can be used.

Polysomnography (PSG): In this examination, 1 point is given if 4 consecutive movements lasting 0.5-5 seconds at intervals of 4-90 seconds are detected during sleep. A score of >15 all night is pathological.

Suggested Immobilization Test (SIT): In this test, the patient is asked to lie awake and stretched out on a bed with a 45° inclination for 1 hour. In this provocative test, the leg muscles are recorded with superficial EMG and it is observed whether PEH occurs.

Actigraphy: A small, inexpensive, portable instrument used to monitor motor activity during the night. It is useful in monitoring sleep quality and the circadian character of PEH.

Apart from these, a number of laboratory tests are recommended. These; ferritin, BUN, creatinine, fasting blood sugar, magnesium, TSH, vitamin B12, folate, glucose tolerance test.

How is Restless Legs Syndrome Treated?

The treatment of Restless Legs Syndrome begins with determining whether there is any secondary cause accompanying the disease. Treatments for these secondary causes will also facilitate the treatment of Restless Legs Syndrome. Restless Legs Syndrome treatment can be with pharmacological support or non-pharmacological treatment methods or a combination of the two.

Non-pharmacological Treatment

Non-pharmacological treatment modalities should be tried before prescribing drugs that may have various side effects in patients with mild symptoms. These:

  • Stretching exercises before sleeping
  • Hot bath
  • Computer game during rest
  • Activities that increase mental activity such as puzzles
  • Keeping the bedroom cool
  • Using comfortable pajamas
  • Going to sleep at the same time and waking up at the same time
  • Not sleeping during the day
  • Avoidance of caffeine, nicotine, alcohol, antihistamines, antiemetics, antipsychotics and antidepressants with antidopaminergic activity
  • Organize their schedules by disease symptoms

Pharmacological Treatment

Patients with moderate to severe complaints often require medical treatment. One of the main goals of Restless Legs Syndrome treatment is to provide adequate and restorative sleep at appropriate and desired times. With the correction of sleep disorder, problems such as fatigue, lack of concentration, sleepiness and even depression, which are common in these patients, can also be resolved. A second goal of treatment is to enable patients to enjoy activities that increase their symptoms, such as reading, watching television, going to the movies, or traveling.

Treatment options are tailored to the frequency and severity of symptoms. Depending on the severity of the symptoms, pharmacological treatment methods may vary.