Periodic limb movement disorder (PLMD) is a sleep disorder where the patient moves limbs involuntarily and periodically during sleep, and has symptoms or problems related to the movement. PLMD should not be confused with restless legs syndrome (RLS), which is characterized by a voluntary response to an urge to move legs due to discomfort. PLMD, on the other hand, is involuntary, and the patient is often unaware of these movements altogether. Periodic limb movements (PLMs) occurring during the daytime period can be found but are considered a symptom of RLS; only PLMs during sleep can suggest a diagnosis of PLMD. Periodic limb movement disorder is characterized by recurrent episodes of frequent limb movements while sleeping. It mostly occurs in the lower body, such as the toes, ankles, knees, and hips. It can also appear in the upper extremities in some cases. These movements can lead the patient to wake up, and if so, sleep interruption can be the origin of excessive daytime sleepiness. PLMD is characterized by increased periodic limb movements during sleep, which must coexist with a sleep disturbance or other functional impairment, in an explicit cause-effect relationship. Usually, these involuntary movements come from lower extremities (including toes, ankles, knees, and hips), although they can also be observed in upper extremities, occasionally. PLMs seem to be common features within many people, and identifying whether or not these movements are clinically relevant for a distinct diagnosis of PLMD remains a challenge for clinical and scientific fields. Moreover, diagnosis of PLMD cannot be used when narcolepsy, restless legs syndrome (RLS), REM sleep behavior disorder (RBD) or untreated obstructive sleep apnea (OSA) is already diagnosed, since abnormal movements during sleep are frequent in these disorders.
Signs and symptoms People with PLMD often have excessive daytime sleepiness (EDS), falling asleep during the day, trouble falling asleep at night, and difficulty staying asleep throughout the night. Patients also display involuntary limb movements that occur at periodic intervals, anywhere from 20 to 40 seconds apart. They often only last the first half of the night during non-REM sleep stages. Movements do not occur during REM because of muscle atonia. PLMS can be unilateral or bilateral and not really symmetrical or simultaneous. PLMS is often a symptom of RLS but evidence for differences between those two sleep disorders was found in literature. Sleep structure differed when RLS patients had significantly more REM sleep and less stage 1 sleep than PLMD patients. Besides, PLMI was significantly higher in patients with PLMD.
Causes It is mostly unknown what causes PLMD, but in many cases the patient also has other medical problems such as Parkinson's disease or narcolepsy. Medical agents must be taken into consideration: several psychopharmacological drugs (serotonergic and tricyclic antidepressants, venlafaxine, and mirtazapine) heighten the risk of PLMD. For women, the presence of musculoskeletal disease, heart disease, obstructive sleep apnea, cataplexy, doing physical activities close to bedtime, and the presence of a mental disorder were significantly associated with having a higher risk of both PLMD and restless legs syndrome. PLMS seems to have an origin in the spinal cord. In fact, PLMS was suggested to be associated with increased spinal reflexes. Manifestations of PLMS seem to occur mostly in disorders associated with dopaminergic dysfunctions.
Diagnosis
People with PLMD often do not know the cause of their excessive daytime sleepiness, and their limb movements are reported by a spouse or sleep partner. PLMD cannot be diagnosed by polysomnogram (PSG) sleep study alone; it is necessary to obtain a full medical history and take into account all available information. Polysomnography is recognized as the assessment method that brings the most precise information on sleep quality, sleep structure, and physiological parameters during sleep (respiration, heart rate, movements). Therefore, diagnosis of PLMD can usually be established only in laboratory settings. As people usually ignore the cause of their daytime impairments, PLMS during sleep are mostly found through laboratory examination rather than clinical complaints. Video-Polysomnography may be recommended to distinguish PLMS from other leg movements during sleep time, which may be similar to PLMS when it comes to duration and pattern. Measures from PSG allocated to the diagnosis of PLMD are essentially based on electromyography (EMG), measuring muscle activity. EMG electrodes are usually placed on the anterior tibialis muscle. Recent studies showed that actigraphy may be combined with PSG as a screening tool for PLMD diagnosis. Actigraphs are watch-shaped devices - usually worn by the adult population on the wrist - used to record sleep and wake periods for at least a week. Recent actigraphy devices allow more precise recordings, which help evaluate if actual movements meet diagnostic criteria for PLMD. Recent studies showed that actigraph records reflect the PLMI criterion quite accurately. Crucial for the diagnosis are the inter-movement intervals and the frequency of PLMS - each movement must happen within a 4 to 90 second interval from the previous movement. The periodic limb movement index (PLMI), which corresponds to the number of periodic limb movements per hour, must be more than 15 movements per hour in adults and 5 movements or more per hour in children. The diagnosis of PLMD requires a visible cause-and-effect relationship between PLMS and an observed sleep disturbance or daytime impairment (both disturbance and impairment have to be clinically significant). Other relevant causes of Insomnia and Hypersomnia have to be ruled out before diagnosing PLMD (most importantly, anxiety, obstructive sleep apnea, and narcolepsy). Furthermore, symptoms can not be better explained by any other conditions. For the differential diagnosis, it is important to differentiate PLMD from other leg movements during sleep, which are high-frequency:
alternating leg movement activity (ALMA) is a very similar event and could be mistaken for PLMS Hypnagogic foot tremor (HFT) events are also very similar to PLMS and could be misdiagnosed Excessive fragmentary myoclonus (EFM) events are shorter than PLMS
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