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Spinal Muscular Atrophy 

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  1. Open Access 06-05-2024 | Spinal Muscular Atrophy | Online First

    Adherence and Persistence Among Risdiplam-Treated Individuals with Spinal Muscular Atrophy: A Retrospective Claims Analysis

    Spinal muscular atrophy (SMA) is a progressive, genetic neuromuscular disease caused by biallelic mutations of the survival of motor neuron 1 ( SMN1 ) gene [ 1 – 3 ]. A second paralogous SMN gene, SMN2, produces low levels of functional SMN …

  2. Open Access 09-05-2024 | Spinal Muscular Atrophy | Online First

    A Post-Marketing Surveillance Study of Nusinersen for Spinal Muscular Atrophy in Routine Medical Practice in China: Interim Results

    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord, which leads to progressive muscular weakness and atrophy [ 1 , 2 ]. The pathologic cause of SMA is …

  3. Open Access 01-12-2024 | Spinal Muscular Atrophy | OriginalPaper

    Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report

    Posterior spinal fusion is a common procedure to treat scoliosis that requires prone position intraoperatively to provide surgical access to the spine [ 1 ]. However, the prone position may compress the chest wall, reduce cardiac output, and cause …

  4. 08-04-2024 | Spinal Muscular Atrophy | BriefCommunication

    Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function

    Spinal muscular atrophy (SMA) is an autosomal recessive lower motor neuron disease. SMA type 3 is a milder phenotype. It comprises patients with later-onset (≥18 months of age), who achieve the ability to walk [ 1 ].

  5. Open Access 05-05-2024 | Spinal Muscular Atrophy | Online First

    Long-Term Comparative Efficacy and Safety of Risdiplam and Nusinersen in Children with Type 1 Spinal Muscular Atrophy

    This article is published with digital features, including a video to facilitate understanding of the article. To view digital features for this article, go to https://doi.org/10.6084/m9.figshare.25398454 .

  6. Open Access 20-04-2024 | Spinal Muscular Atrophy | Online First

    Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden

    5q spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disorder that is characterised by skeletal muscle weakness, hypotonia, respiratory deficiency, and a decline in motor function [ 1 – 3 ]. Type 1 is the most severe form of SMA …

  7. 06-04-2024 | Spinal Muscular Atrophy | Online First

    Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review

    The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive …

  8. Open Access 15-02-2024 | Spinal Muscular Atrophy | OriginalPaper

    Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment

    5q-associated spinal muscular atrophy (SMA) is a hereditary motor neuron disease that leads to progressive weakness and muscular atrophy including ventilatory and bulbopharyngeal muscles. SMA is caused by homozygous deletion or compound …

  9. 03-02-2024 | Polio Virus | OriginalPaper

    Observational analysis of the immunogenicity and safety of various types of spinal muscular atrophy vaccines

    Spinal muscular atrophy (SMA) is a common acute enteric infectious disease primarily transmitted via the fecal–oral route. The infection of SMA can be classified into type I, type II, and type III (Chumakovet al. 2021 ; Tseha 2021 ). SMA is caused …

  10. Open Access 01-12-2024 | Spinal Muscular Atrophy | OriginalPaper

    RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

    Spinal Muscular Atrophy (SMA) is a severe progressive neuromuscular disorder that results in premature death or severe motor disability [ 1 ]. SMA is characterized by degeneration and death of alfa motor neurons mainly in the anterior horn of the …

  11. Open Access 01-06-2024 | Spinal Muscular Atrophy | OriginalPaper

    Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy

    Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized on 5q). In consequence, cells lack expression of the corresponding protein. This …

  12. Open Access 01-12-2024 | Spinal Muscular Atrophy | OriginalPaper

    Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy

    Spinal adhesive arachnoiditis (SAA) is an inflammatory process of the arachnoid membrane which encases nerve roots. The possible etiologic factors of SAA include infections, spinal cord injury, spine surgery and intrathecal administration of …

  13. 04-03-2024 | Spinal Muscular Atrophy | Online First

    Advancing understanding and treatment of spinal muscular atrophy with four SMN2 copies: a critical review

  14. 24-02-2024 | Leuprolide | Online First

    Efficacy of leuprorelin in spinal and bulbar muscular atrophy: a 3-year observational study

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG trinucleotide expansions in the androgen receptor (AR) gene on the X chromosome [ 1 – 3 ]. Expansions in the AR gene promotes gradual loss of lower motor …

  15. Open Access 01-12-2024 | Spinal Muscular Atrophy | OriginalPaper

    Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

    Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder associated with multiple system dysfunctions, including respiratory, digestive, and skeletal disorders, causing a substantially diminished quality of life for affected individuals [ …

  16. Open Access 01-12-2024 | Spinal Muscular Atrophy | OriginalPaper

    Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

    First introduced in the early 2000s in the field of oncology, multidisciplinary team meetings (MDTs) have proven their value in optimizing and standardizing the management and decision-making for cancer patients worldwide [ 1 ]. The practice of …

  17. 09-10-2023 | Spinal Muscular Atrophy | Letter

    Spinal Muscular Atrophy with Predominant Lower Extremity (SMA-LED) with Intellectual Disability and Dysmorphism

  18. Open Access 02-03-2024 | Spinal Muscular Atrophy | Online First

    Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey

  19. Open Access 24-10-2023 | Spinal Muscular Atrophy | Case Study

    Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports

    Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by deletions or variants in the survival motor neuron 1

  20. 11-12-2023 | Spinal Muscular Atrophy | Online First

    ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype

    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug …

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