Publications by authors named "Sanne C C Vincenten"
Introduction/aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement.
View Article and Find Full Text PDFObjectives: Muscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head.
Methods: FSHD patients were assessed at baseline and after five years.
Article Synopsis
- Changes in muscle MRI metrics over five years correlate with clinical outcomes in facioscapulohumeral muscular dystrophy (FSHD), indicating their potential as prognostic biomarkers in trials.
- The study involved 105 patients, who underwent MRI assessments and clinical evaluations, showing a median MRI compound score increase of 2.0% and small changes in clinical scores.
- Subgroups of patients with specific MRI characteristics exhibited the most significant radiological progression, highlighting the importance of targeted assessments in understanding the disease's impact.
Purpose: Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at least in part due to the fact that there are few adequate clinical outcome measures available.
Methods: We developed the Facial Function Scale, a Rasch-built questionnaire on the functional disabilities relating to facial weakness in FSHD.
Objective: To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD).
Methods: Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years. Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were measured using hand-held spirometry with a face mask.
Article Synopsis
- Researchers explored the influence of smoking and alcohol consumption on the variability of disease severity in patients with facioscapulohumeral muscular dystrophy (FSHD), suspecting that these factors could be linked to oxidative stress in muscle tissue.
- A study with 198 genetically confirmed FSHD patients found no significant relationship between the levels of smoking or alcohol consumption and the severity of their disease.
- While the results indicate that smoking and alcohol do not affect the severity of FSHD, the authors suggest further research to determine if these habits impact the progression rate of the disease over time.
Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1.
View Article and Find Full Text PDFObjective: To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients.
Methods: We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and edema.
Results: The MRI fat fraction and ultrasound echogenicity z-score correlated strongly (CC 0.
Article Synopsis
- The study aimed to enhance clinical trials for facioscapulohumeral muscular dystrophy (FSHD) by using quantitative muscle MRI to correlate with clinical outcomes in a large sample of well-defined patients.
- Researchers analyzed MRI scans of 140 FSHD patients, finding that fat infiltration in leg muscles correlated significantly with various clinical measures of motor function and muscle strength.
- The results suggest that quantitative muscle MRI can detect muscle pathology before physical symptoms appear, making it a valuable biomarker for assessing disease severity in FSHD trials.