Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)

BMC Pediatrics (2021)

Mary Ann Curry Rosángel Cruz Lisa Belter Mary Schroth Megan Lenz Jill Jarecki

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Abstract:

Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modifying disease progression and improving outcomes, serious diagnostic delays persist. There is a need to improve SMA awareness, screening, and referral patterns.

Keywords:

Neuromuscular disease

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Neurogenetic and Muscular Disorders Research

Cardiac Structural Anomalies and Repair

Congenital Anomalies and Fetal Surgery

10.1186/s12887-021-02692-2

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Therapeutic decisions under uncertainty in spinal muscular atrophy (decisions-SMA study): A research protocol

Journal of the Neurological Sciences (2021)

Gustavo Saposnik Paola Díaz-Abós Victoria Sánchez-Menéndez Carmen Álvarez María Terzaghi

Discontinuation

10.1016/j.jns.2021.118428

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Recent research on the treatment of spinal muscular atrophy.

PubMed (2022)

Dongling Yang

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy. SMA, as an inherited disease, is the leading cause of death in infants and young children. Rapid progress has been made in the research field of SMA in recent years, and some related treatment drugs have been successfully approved for marketing. This article reviews the recent research advances in the treatment of SMA.脊髓性肌萎缩症（spinal muscular atrophy，SMA）是一种常染色体隐性遗传的神经肌肉疾病，主要特征为进行性肌无力和肌肉萎缩。该病是导致患儿在婴幼儿期死亡的首要遗传病。SMA治疗的研究领域近年来发展迅速，部分相关治疗药物已经成功获批上市。该文以SMA近年的治疗研究进展作一综述。.

Neuromuscular disease

10.7499/j.issn.1008-8830.2110041

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Citations (1)

Spinal Muscular Atrophy

Neurodegeneration (2017)

Joseph Wooley Melissa Crowder Noah J. Pyles Charlotte J. Sumner

Muscle Atrophy

10.1002/9781118661895.ch16

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Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): results of the phase 3 CHERISH study

Neuropediatrics (2017)

Janbernd Kirschner Eugenio Mercuri Richard S. Finkel Claudia A. Chiriboga Nancy L. Kuntz

10.1055/s-0037-1603574

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Molecular genetics of spinal muscular atrophy

Elsevier eBooks (2023)

Diana Marcela Toledo

SMN1

10.1016/b978-0-12-822824-1.00015-8

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[Research progress on biomarkers for the monitoring of Spinal muscular atrophy].

PubMed (2024)

Yemin Jian Liwen Wu

Spinal muscular atrophy (SMA) is the most common neuromuscular disease in children, which seriously affects children's health. At present, gene and molecular modification therapy for SMA have become hot spots. However, there are many uncertainties about when people with SMA should start treatment, how well the drugs can treat, and the prognosis. Therefore, reliable biomarkers for monitoring and evaluation are urgently needed. This review will summarize the progress made in SMA biomarker research in recent years.

Neuromuscular disease

Biomarker Discovery

10.3760/cma.j.cn511374-20221111-00784

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EE173 Cost-Effectiveness of Risdiplam for Patients with Types 1 - 3 Spinal Muscular Atrophy (SMA) in Francecost-Effectiveness of Risdiplam for Patients with Types 1 - 3 Spinal Muscular Atrophy (SMA) in France

Value in Health (2022)

M Boussahoua C. Simone Sutherland Valerie Aponte Ribero R Enache K Le Lay

10.1016/j.jval.2022.09.423

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Perspectives on models of spinal muscular atrophy for drug discovery