2023PubMedRequires access

[Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)].

Author information unavailable

Open publisher page 3 citations

Abstract

Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.

About this research paper

What this paper is about

Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.

Why it matters

OpenAlex reports 3 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Spinal muscular atrophy (SMA) is a common degenerative neurological disease characterized by progressive muscle weakness and atrophy. In recent years, disease-modifying therapies have emerged and changed the natural course of SMA, with pre-symptomatic diagnosis and treatment being superior to post symptom treatment. Therefore, in order to standardize and guide the current newborn screening work of SMA, we organized national experts from related fields across the country to reach the following consensus: the SMA newborn screening process and related issues, the SMA post-screening diagnosis process and related issues, and the disease management of screened and confirmed SMA newborns, etc.

Key concepts: SMA*, Spinal muscular atrophy, Medicine, Weakness, Physical medicine and rehabilitation, Disease, Atrophy, Physical therapy

Related papers

Back to paper searchBrowse research topicsOriginal source
[Expert consensus on newborn screening for spinal muscular atrophy (2023 edition)]. — Research Paper | ScholarLens