Publications by authors named "Stanislava Blagoeva"
Article Synopsis
- Congenital myasthenic syndromes (CMS) are inherited conditions causing muscle weakness and fatigue, and this study focuses on patients with a specific genetic mutation (c.1327delG in the CHRNE gene) linked to CHRNE-CMS.* -
- The research involved 91 Bulgarian Roma patients and assessed various symptoms such as ocular issues and muscle weakness using standardized tests and patient-reported measures, categorizing severity into mild, moderate, and severe levels.* -
- Results indicated notable variability in symptoms among patients, including consistent bulbar weakness and permanent diplopia, while severe cases showed more significant respiratory function impairment, highlighting the diverse clinical presentation of this genetic mutation.*
Unlabelled: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by a destabilized mutant form of transthyretin (TTR), a transport protein predominantly produced by the liver.
Aim: The aims of the current study are to demonstrate the Bulgarian experience with the screening programs among the high-risk patient population over the last 7 years, to present the results from the therapy with TTR stabilizer in our cohort, as well as to stress on the importance of a follow-up of asymptomatic carriers with TTR pathogenic variants by a multidisciplinary team of specialists.
Materials And Methods: In 2014, a screening program among the high-risk patient population for ATTRv was initiated in Bulgaria.