The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era

The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era

Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is evidence that early diagnosis and therapeutic inte...

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Bibliographic Details
Main Authors: Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Communication of diagnosis
Genetic counseling
Psychological impact
Spinal muscular atrophy
Treatment decision making
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008348

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