Abstract

OBJECTIVE: The clinical spectrum of SMA has changed due to advances in the treatment with disease-modifying therapies, which should be started as soon as possible to improve therapy efficacy and the disease's prognosis. This work aims to present the state of the art of the SMA clinical pathway, outlining the importance of newborn screening (NBS) in patient management.

MATERIALS AND METHODS: The literature search was conducted on PubMed, using the following keywords: spinal muscular atrophy, genetics, diagnosis, SMA disease-modifying therapies, SMA newborn screening, SMN1, SMN2, SMN2 copy number. Relevant articles published in English from 2010 to 2024 were selected.

RESULTS: NBS can enable early diagnosis and early initiation of therapy, thus changing the prognosis and clinical pathway of the disease. As a result, significant improvement in the quality of life of patients suffering from SMA and their families can be observed.

CONCLUSIONS: A well-established NBS system shows strong potential and social impact along with adequate support in the follow-up phases of SMA diagnosis and clinical management.