Medicina clinica
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Restless legs syndrome is the most prevalent sleep-related movement disorder, affecting 5-10% of the population, characterized by an urge to move that appears during rest or is exacerbated by rest, primarily in the lower extremities, that occurs in the evening or night and that disappears during movement or is improved by movement. Restless legs syndrome significantly impacts sleep, mood, and quality of life. ⋯ Treatment typically includes iron supplementation and symptomatic therapy, traditionally utilizing dopamine agonists. However, their long-term use may exacerbate symptoms, relegating them to second-line treatment after ligands α2δ of calcium channels.
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Pompe Disease (PD) is a lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), primarily manifesting as a progressive myopathy with early respiratory involvement. Enzyme replacement therapy (ERT) is available since 2006. ⋯ Not all patients with partial GAA deficiency experience symptoms of PD, and symptomatic patients, despite ERT with recombinant alpha-glucosidase, mostly experience a gradual decline in motor and respiratory function.