Work

Spinal muscular atrophy clinical aspects – review article

Year: 2025

Type: article

Abstract: Spinal muscular atrophy (SMA) is a genetically determined devastating neuromuscular disorder leading to motor handicap of various intensity in patients. Disease mainly affects α-motoneurons but it affects whole body what is increasingly emphasized in recent researches. Endocrinological problems, respiratory issues and bone fracture are most important problems in SMA patients. Until recently only symptomatic treatment was available. Currently we have three therapies approved for SMA: nusinersen, onasemnogene abeparvovec-xioi and risdiplam. In this article current knowledge about SMA symptoms and available treatment options are presented.

Source: Next research.

DOI: 10.1016/j.nexres.2025.100769

Authors: Katarzyna Pierzchlewicz, Katarzyna Kotulska

Institution: Children's Memorial Health Institute

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,500