Abstract
Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum of clinical phenomena commonly presenting during childhood and characteristically elicited by physical exercise. Interestingly, few shared pathogenetic mechanisms have been identified beyond the well-known entity of paroxysmal exercise-induced dyskinesia, PENS could be part of more complex phenotypes including neuromuscular, neurodegenerative, and neurometabolic disease, epilepsies, and psychogenetic disorders. The wide and partially overlapping phenotypes and the genetic heterogeneity make the differential diagnosis frequently difficult and delayed; however, since some of these disorders may be treatable, a prompt diagnosis is mandatory. Therefore, an accurate characterization of these symptoms is pivotal for orienting more targeted biochemical, radiological, neurophysiological, and genetic investigations and finally treatment. In this article, we review the clinical, genetic, pathophysiologic, and therapeutic landscape of paroxysmal exercise induced neurological symptoms, focusing on phenomenology and differential diagnosis.
Highlights
Physical exercise requires a profound adaptation of the whole body to be able to provide the increased energy needs essential for muscle contraction and the physiological functions of vital organs such as the heart, lungs and most importantly the brain
We propose to group these phenomena, which are frequently encountered in clinical practice, in a new clinical entity defined as Paroxysmal Exercise-induced Neurological Symptoms (PENS)
They commonly present during infancy or childhood with dystonic or choreic attacks, isolated or in combination, that usually affects the part of the body that is involved in the exercise, such as leg or arm dystonia after prolonged walking or writing
Summary
Physical exercise requires a profound adaptation of the whole body to be able to provide the increased energy needs essential for muscle contraction and the physiological functions of vital organs such as the heart, lungs and most importantly the brain. Genetic or acquired defects disturb membrane excitability, synaptic transduction and transport, and storage, mobilization or utilization of the substrates involved in cell metabolism in the brain, muscles or neuromuscular junction (NMJ) (Figure 1). This leads to a wide spectrum of pediatric neurological symptoms characteristically elicited by prolonged physical exertion. We propose to group these phenomena, which are frequently encountered in clinical practice, in a new clinical entity defined as Paroxysmal Exercise-induced Neurological Symptoms (PENS). They range from dyskinesia and ataxia to myalgia, cramping and rhabdomyolysis, myotonia, Pediatric PENS. PEDIATRIC PAROXYSMAL EXERCISE-INDUCED NEUROLOGICAL SYMPTOMS: PHENOTYPIC AND GENOTYPIC SPECTRUM
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
