Publications by authors named "J J Verschuuren"
Article Synopsis
- * The research identified 12 significant genetic markers linked to MG, with certain markers associated specifically with early-onset (under 50) and late-onset (50 and older) forms of the disease.
- * Additionally, the study highlighted the potential role of genetic factors in determining the age of disease onset and demonstrated that polygenic risk scores could help predict MG status, explaining over 4% of the variation in disease presence.
The 275th ENMC workshop on the diagnosis and management of seronegative myasthenia gravis (SNMG) was held on February 9-11, 2024. The participants included experts in the field of adult and pediatric MG together with patient representatives. This workshop aimed to redefine SNMG in view of recent diagnostic and therapeutic updates and to identify patient unmet needs.
View Article and Find Full Text PDFBackground And Purpose: There are concerns for safety regarding SARS-CoV-2 vaccines for patients with autoimmune neuromuscular disease. We compared daily functioning using disease-specific patient-reported outcome measures (PROMs) before and after SARS-CoV-2 vaccinations.
Methods: In this substudy of a prospective observational cohort study (Target-to-B!), patients with myasthenia gravis (MG), chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and idiopathic inflammatory myopathy (IIM) vaccinated against SARS-CoV-2 were included.
Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach to a nationwide hospital-based dataset and a patients association-based dataset to estimate the annual incidence rates for fifteen neuromuscular disorders in the Netherlands.
View Article and Find Full Text PDFArticle Synopsis
- Duchenne and Becker muscular dystrophy currently have no cure, but the Dutch Dystrophinopathy Database (DDD) aims to facilitate therapy development by gathering comprehensive and reusable data from affected patients.
- DDD allows for online enrollment and participation at varying levels, collecting important clinical and self-reported data while maintaining a governance structure for effective management and oversight.
- As of November 1, 2023, the database has 742 enrolled participants, enabling the identification of potential candidates for clinical studies and supporting ongoing research in the field.