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. Results: Out of 2,074 patients, 892 were males (43.0%) and 1,193 were females (57.0%). The thymoma associated MG (TAMG) was diagnosed in 123 patients (5.9%). The mean age at onset shifted from 35.8 years in 1977–1989 to 60.0 years in ­2010–2015. The crude incidence increased from 0.36/100,000 in 1977–1989 to 1.74/100,000 in 2010–2015. The average annual incidence of TAMG was 0.05/100,000. Maximum increase of MG incidence was registered among the elderly (≥50 years), particularly in the group of patients in the age range 70–79 years (0.34/100,000 in 1977–1989→7.10/100,000 in 2010–2015) and 80–89 years (0.00/100,000 in 1977–1989→5.31/100,000 in 2010–2015). The crude MG prevalence on December 31, 2015 was 24.75/100,000. The average MG mortality was 0.27/100,000. Conclusion: The age at onset and incidence increased significantly over the study period due to marked increase of MG incidence in elderly, particularly over 70 years. Possible reasons for this trend are discussed.

No abstract

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. Only a few families with the described features but no genetic testing have been reported in Slovakia. This prompted us to investigate genetic mutations in the SCN4A gene in 3 Slovak families clinically diagnosed with paramyotonia. Subjects and Methods. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. SCN4A variants were screened by Sanger sequencing. Results. Our results revealed 2 potential disease-causing mutations present in the probands and affected family members-mutations c.3938C > T (p.T1313M) in two families and mutation c.2111C>T (p. T704M) in one family. Conclusion. Our results may help to identify genetic determinants as well as clarify genotype-phenotype relationships in patients with paramyotonia in Slovakia.

No abstract

SHORT COMMUNICATION KRÁTKÉ SDĚLENÍ Kennedyho choroba v materiáli Centra pre neuromuskulárne ochorenia Bratislava Kennedy's Disease in the Neuromuscular Centre in Bratislava Súhrn Úvod: Kennedyho spinálna a bulbárna svalová atrofia patrí k hereditárnym ochoreniam s dedičnosťou viazanou na X chromozóm. Je najčastejšou formou spinálnej muskulárnej atrofie v dospelom veku a je spôsobená zmnožením trinukleotidových repetícií v géne pre androgénový receptor. Cieľ: Porovnanie klinických a genetických charakteristík našich pa cientov s pa cientmi v troch veľkých súboroch z Japonska, USA a Veľkej Británie. Súbor a metodika: V rokoch 1990-2013 sme na Neurologickej klinike LF SZU a UN Bratislava v jej Centre pre neuromuskulárne ochorenia dia gnostikovali a sledovali 17 pa cientov s geneticky verifi kovanou dia gnózou Kennedyho choroby. U všetkých pa cientov sme odobrali podrobnú anamnézu, urobili neurologické, laboratórne a elektrofyziologické vyšetrenia včítane genetického vyšetrenia materiálu PCR metodikou. Výsledky: Väčšina zistených parametrov bola podobná údajom zo zahraničných prácpriemerný vek pa cientov pri vyšetrení bol 53,6 ± 9,7 roka, priemerný vek pri vzniku klinických ťažkostí bol 43,1 ± 8,1 roka, priemerná doba od vzniku ťažkostí po určenie dia gnózy bola 5,2 ± 4,6 roka a priemerná doba trvania ochorenia 9,2 ± 7,7 roka. Podobné boli i lokality úvodných príznakov ochorenianajčastejšie boli pozorované v pletencoch dolných končatín (47 % pa cientov), nasledujú bulbárne svaly (17 %) a pletence horných končatín (po 12 %). V našom súbore sme zistili v porovnaní so zahraničnými nižšiu frekvenciu výskytu ochorenia v rodine (35 %), priemerný počet repetícií CAG trinukleotidu bol podobný s ostatnými súbormi (44,4 ± 3,2). Bola zistená veľmi silná korelácia medzi počtom CAG repetícií a najvyššou zistenou hladinou kreatínfosfokinázy a silná korelácia medzi trvaním ochorenia a najvyššou zistenou hladinou kreatínfosfokinázy, iné významné korelácie sme nezistili.