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- Title
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
- Authors
Angilletta, Ilaria; Ferrante, Rossella; Giansante, Roberta; Lombardi, Lucia; Babore, Alessandra; Dell'Elice, Anastasia; Alessandrelli, Elisa; Notarangelo, Stefania; Ranaudo, Marianna; Palmarini, Claudia; De Laurenzi, Vincenzo; Stuppia, Liborio; Rossi, Claudia
- Abstract
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.
- Subjects
SPINAL muscular atrophy; MOTOR neuron diseases; MUSCULAR atrophy; NEUROMUSCULAR diseases; DIAGNOSIS; AUDIOMETRY; IDENTIFICATION
- Publication
International Journal of Molecular Sciences, 2023, Vol 24, Issue 19, p14873
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms241914873