Publications by authors named "P Spalek"
Article Synopsis
- Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease linked to mutations in the DYSF gene, which also affects the brain's structure and function, although this impact hasn't been fully studied.
- Using MRI techniques, a family study revealed significant differences in the brain of MMD patients, including an asymmetrical increase in the size of their inferior lateral ventricles and notable decreases in magnesium levels and energy metabolism in brain regions like the hippocampus.
- Following a month of magnesium supplementation, the MMD patients showed improvements, suggesting potential benefits and calling for more research into the brain functions of MMD patients and further testing of magnesium therapy.
Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG) repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population. Although expanded alleles, premutation range and, in rare cases, also non-disease associated alleles containing uninterrupted CCTG tracts have been described, the threshold between these categories is poorly characterised.
View Article and Find Full Text PDFParamyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
December 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration of genetics as more than 100 mutations in the CLCN1 gene and at least 20 mutations in the SCN4A gene are associated with the clinical features of the non-dystrophic myotonias.
View Article and Find Full Text PDFEpidemiology of Myasthenia Gravis in Slovakia in the Years 1977-2015.
Neuroepidemiology
September 2019
Purpose: The objective of the study was to evaluate changes of epidemiological parameters in patients with myasthenia gravis (MG) in Slovakia during the period 1977-2015.
Methods: Data from medical records of MG patients registered in Slovakia were analyzed. Epidemiological rates (incidence, prevalence, mortality) were assessed for several periods to identify changes and drifts over the period of study.
Importance of thymectomy and prognostic factors in the complex treatment of myasthenia gravis.
Bratisl Lek Listy
August 2016
Background: Thymectomy is indicated in patients with seropositive myasthenia gravis (SPMG) in patients under the age of 50 and in patient with myasthenia gravis (MG) associated with thymoma.
Methods: 345 patients with MG who underwent an extended thymectomy from April 1990 to December 2010. Patients were separated into the 4 groups: group with a complete stable remission, pharmacological remission group, group of patients with significant improvement and the group with mild improvement of symptoms.