Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies
oleh: Ilaria Angilletta, Rossella Ferrante, Roberta Giansante, Lucia Lombardi, Alessandra Babore, Anastasia Dell’Elice, Elisa Alessandrelli, Stefania Notarangelo, Marianna Ranaudo, Claudia Palmarini, Vincenzo De Laurenzi, Liborio Stuppia, Claudia Rossi
Format: | Article |
---|---|
Diterbitkan: | MDPI AG 2023-10-01 |
Deskripsi
Spinal muscular atrophy (SMA) linked to 5q is a recessive motor neuron disease characterized by progressive and diffuse weakness and muscular atrophy. SMA is the most common neurodegenerative disease in childhood with an incidence of approximately 1 in 6000–10,000 live births, being long considered a leading cause of hereditary mortality in infancy, worldwide. The classification of SMA is based on the natural history of the disease, with a wide clinical spectrum of onset and severity. We are currently in a new therapeutic era, that, thanks to the widespread use of the newly approved disease-modifying therapies and the possibility of an early administration, should lead to a deep change in the clinical scenario and, thus, in the history of SMA. With the aim to achieve a new view of SMA, in this review we consider different aspects of this neuromuscular disease: the historical perspective, the clinical features, the diagnostic process, the psychological outcome, innovation in treatments and therapies, the possibility of an early identification of affected infants in the pre-symptomatic phase through newborn screening programs.