The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapter describes how a combined approach, based on the combination of clinical signs and new genetic techniques, can help not only to establish when the hypotonia is related to peripheral involvement but also to achieve an accurate and early diagnosis of the specific neuromuscular diseases with neonatal onset. The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more importantly, because of the possibility to treat some of them, such as spinal muscular atrophy, with therapeutic approaches that have recently become available.

Mercuri, E., Pera, M. C., Brogna, C., Neonatal hypotonia and neuromuscular conditions, in Linda S. De Vries, H. C. G. (ed.), Neonatal Neurology, Elsevier, Cambridge 2019: 162 435- 448. 10.1016/B978-0-444-64029-1.00021-7 [http://hdl.handle.net/10807/213586]

Neonatal hypotonia and neuromuscular conditions

Mercuri, Eugenio;Pera, Maria Carmela;Brogna, Claudia
2019

Abstract

The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapter describes how a combined approach, based on the combination of clinical signs and new genetic techniques, can help not only to establish when the hypotonia is related to peripheral involvement but also to achieve an accurate and early diagnosis of the specific neuromuscular diseases with neonatal onset. The early identification of such disorders is important, as this allows early intervention with disease-specific standards of care and, more importantly, because of the possibility to treat some of them, such as spinal muscular atrophy, with therapeutic approaches that have recently become available.
Inglese
Neonatal Neurology
9780128018491
Elsevier
162
Mercuri, E., Pera, M. C., Brogna, C., Neonatal hypotonia and neuromuscular conditions, in Linda S. De Vries, H. C. G. (ed.), Neonatal Neurology, Elsevier, Cambridge 2019: 162 435- 448. 10.1016/B978-0-444-64029-1.00021-7 [http://hdl.handle.net/10807/213586]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/213586
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