Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/19/14873 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Ilaria Angilletta |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T21:43:03Z |
| format | Article |
| id | doaj.art-b91fabc271dc40aba8f65d9236ae5cfe |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T21:43:03Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-b91fabc271dc40aba8f65d9236ae5cfe2023-11-19T14:31:54ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-10-0124191487310.3390/ijms241914873Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in TherapiesIlaria Angilletta0Rossella Ferrante1Roberta Giansante2Lucia Lombardi3Alessandra Babore4Anastasia Dell’Elice5Elisa Alessandrelli6Stefania Notarangelo7Marianna Ranaudo8Claudia Palmarini9Vincenzo De Laurenzi10Liborio Stuppia11Claudia Rossi12Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyDepartment of Psychological, Health and Territory Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyCenter for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalySpinal 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.https://www.mdpi.com/1422-0067/24/19/14873spinal muscular atrophygene therapynewborn screeningdisease-modifying therapiesdiagnosispsychological adjustment |
| spellingShingle | 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 Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies International Journal of Molecular Sciences spinal muscular atrophy gene therapy newborn screening disease-modifying therapies diagnosis psychological adjustment |
| title | Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies |
| title_full | Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies |
| title_fullStr | Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies |
| title_full_unstemmed | Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies |
| title_short | Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies |
| title_sort | spinal muscular atrophy an evolving scenario through new perspectives in diagnosis and advances in therapies |
| topic | spinal muscular atrophy gene therapy newborn screening disease-modifying therapies diagnosis psychological adjustment |
| url | https://www.mdpi.com/1422-0067/24/19/14873 |
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