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Časopis Neurology – Článok Facio-scapulo-humeral muscular dystrophy (FSHD) – etiopathogenesis, diagnostics, a cohort of 30 patients in Slovakia

Neurology

Reviewed, postgraduate scietific medical journal.
Period 3x per year
1336-8621
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
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Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné
Téma: Original works

Facio-scapulo-humeral muscular dystrophy (FSHD) - etiopathogenesis, diagnostics, a cohort of 30 patients in Slovakia

Ivan Martinka, Peter Špalek, Lenka Fajkusová

Facio-scapulo-humeral muscular dystrophy (FSHD) is an autosomal hereditary disease characterized in a typical manner by slowly progressing muscle weakness, especially affecting the mimic, periscapular, shoulder muscles as well as to a lesser extent the distal and proximal muscles of the lower extremities. Typically, it manifests itself in adolescent age, but can occur at any age. Extramuscular manifestations are common in infantile and juvenile forms. Etiopathogenetically, the disease is caused by pathological reactivation of transcription factors (especially DUX4) located in the subtelomeric region of the 4th chromosome (4q35). Based on the molecular genetic nature of the disease, we distinguish 2 forms: FSHD 1 and FSHD 2. For FSHD1, which accounts for 95% of cases, we find pathologically reduced number of repeats of the D4Z4 fragment in the 4q35 region. In FSHD2, the number of repeats is normal, mutations of different genes (SMCHD1, DNMT3B) responsible for regulating transcription factor activity in the 4q35 region are detected. In our paper we describe etiopathogenesis, clinical picture and diagnosis of FSHD. We report epidemiological, clinical and laboratory data of 30 patients with FSHD diagnosed in the Slovak Republic.

facio-scapulo-humeral muscular dystrophy (FSHD) 1 and 2, etiopathogenesis, clinical picture, diagnosis, FSHD in Slovakia
Neurológia 2019; 14 (2): 57-61

Ročník 2019  Témy časopisu Neurology 2 / 2019

Original works

Ivan Martinka, Peter Špalek, Lenka Fajkusová
Terézia Mazúrová, Ema Kantorová, Egon Kurča, Štefan Sivák

Overview works

Jan Krejsek
Marek Tarčák, Veronika Vajdová
Slavomíra Kováčová
René Opšenák, Pavol Snopko, Martin Hanko, Kristián Varga, Tomáš Fejerčák, Radoslav Hanzel, Mária Masaryková, Branislav Kolarovszki
David Černík, Filip Cihlář, Daniel Šaňák
Daniela Botiková, Stanislav Voháňka

Case studies

Ladislav Gurčík, Peter Špalek, František Cibulčík
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Period 3x per year
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The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Neurology
Neurology
Reviewed, postgraduate scietific medical journal.
Period 3x per year
Predplatné