Publications by authors named "E Belougne Malfatti"
Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFBackground: Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described.
Objective: To report a newly acquired myopathy associated with MG.
Methods: Three adult patients with the same phenotype from two French referral centers were prospectively analyzed.
Article Synopsis
- The study assesses 24 patients with Nemaline myopathy type 6 (NEM6) in the Netherlands, focusing on detailed clinical characteristics and symptom reporting.
- Key findings include reported symptoms of muscle weakness, slow movements, and difficulties with running, along with significantly reduced health-related quality of life and increased fatigue.
- The research also highlights issues with balance and falls, as well as a slower muscle relaxation rate compared to normal standards.
Background: Risdiplam is a validated treatment for adult SMA patients, but clear guidelines concerning functional assessment at baseline and during the follow-up are still limited, especially in terms of sensible and validated outcome measures able to capture minimal changes in motor performances induced by therapy. The aim of this work is to describe the effect of Risdiplam on a cohort of 6 adult type 2 and type 3 SMA patients, using Motor Function Measure (MFM32) as a standardized scaleto quantify the motor improvements induced by therapy.
Results: Risdiplam at the dose of 5 mg/daily was administered to a population of 6 (4 F;2 M) type 2 (N = 4) and type 3 (N = 2), adult SMA patients.
Article Synopsis
- Rigid spine syndrome is a rare condition in children marked by progressive scoliosis, neck and spine stiffness, muscle weakness, and breathing issues, primarily linked to genetic variations in the SELENON gene.
- Recent research identified additional genetic variants in the HMGCS1 gene in five patients, suggesting it plays a role in this syndrome, despite it not being previously linked to any diseases.
- Functional studies of the HMGCS1 variants showed altered protein stability and activity, and experiments in zebrafish indicated that these mutations severely impact development, but can be rescued by introducing healthy HMGCS1 mRNA.