Abstract
Restless legs syndrome is a common but still underdiagnosed neurologic disorder, characterized by peculiar symptoms typically occurring in the evening and at night, and resulting in sleep disruption and daily functioning impairment. This disease can affect subjects of all age ranges and of both sexes, manifesting itself with a broad spectrum of severity and deserving special attention in certain patient categories, in order to achieve a correct diagnosis and an effective treatment. The diagnosis of restless legs syndrome can be challenging in some patients, especially children and elderly people, and an effective treatment might be far from being easy to achieve after some years of drug therapy, notably when dopaminergic agents are used. Moreover, the pathophysiology of this disorder offers an interesting example of interaction between genetics and the environment, considering strong iron metabolism involvement and its interaction with recognized individual genetic factors. Therefore, this syndrome allows clinicians to verify how lifespan and time can modify diagnosis and treatment of a neurological disorder.
Highlights
Restless legs syndrome (RLS), known as Willis–Ekbom disease, is a frequent neurological disorder whose recognition among neurologists is still low, despite the typical symptoms reported by patients [1]
periodic leg movements of sleep (PLMS) can be used as an accessory diagnostic criterion, along with response to dopaminergic treatment, especially in difficult to diagnose RLS patients
Iron and dopamine pathophysiological mechanisms seem to be related one to another, since the hypoxic pathway, activated by brain iron imbalance, interferes with dopamine metabolism, activating the enzymatic cascade producing an increased dopamine synthesis [8]. It follows that distinguishing primary from secondary RLS on the basis of iron deficiency could be debatable, since iron is involved in the pathophysiology even when iron deficiency is not evident
Summary
Restless legs syndrome (RLS), known as Willis–Ekbom disease, is a frequent neurological disorder whose recognition among neurologists is still low, despite the typical symptoms reported by patients [1]. This condition was first described in 1685 by Sir Thomas Willis, a British anatomist and physician, but it was in 1944 that Karl Axel Ekbom, a Swedish physician, reported all the clinical features and coined the term RLS [2]. Drug therapy of RLS changes across the lifespan of a patient, requiring specific adjustments in specific conditions [13]
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