Publications by authors named "George Konstantinos Papadimas"
Patients with myasthenia gravis treated with methotrexate are usually young and sexually active. Therefore, sexual dysfunction associated with MTX treatment should be considered and specifically searched in them as it can be an under-recognized cause of treatment failure or poor compliance.
View Article and Find Full Text PDFCongenital myopathies (CMs) constitute a group of heterogenous rare inherited muscle diseases with different incidences. They are traditionally grouped based on characteristic histopathological findings revealed on muscle biopsy. In recent decades, the ever-increasing application of modern genetic technologies has not just improved our understanding of their pathophysiology, but also expanded their phenotypic spectrum and contributed to a more genetically based approach for their classification.
View Article and Find Full Text PDFBackground: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients.
Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations.
Article Synopsis
- Early joint contractures in childhood or adolescence are commonly associated with Emery-Dreifuss muscular dystrophy and collagen-VI related diseases, but rare in other progressive muscular dystrophies.
- A patient with severe elbow contractures and a rigid spine was diagnosed with facioscapulohumeral muscular dystrophy later in life, showcasing an unusual presentation without prior muscle weakness.
- This case emphasizes the variability in muscular dystrophy phenotypes and the challenges in making accurate diagnoses, particularly in cases with reduced allele expressions.
Introduction: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the CNBP gene.
Methods: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation.
Results: The age at diagnosis ranged from 38 to 69 years.