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| Description
| - Myotonic dystrophy type 1 (MD1) is an autosomal dominant disease affecting both striated and smooth muscle. Clinical symptomatology of the disease includes not only muscular manifestations but also other symptoms resulting, in particular, from the involvement of the heart, eyes, central nervous system or some endocrine glands. A case report is presented of a boy who was diagnosed with asymptomatic MD1 at the age of ten years old. In the subsequent period, he had not been under neurological observation and had never undergone cardiological evaluation. At the age of 17, he had collapsed during sports and was found to have severe ventricular fibrillation. Subsequently, the boy underwent a comprehensive evaluation and had an implantable cardioverter-defibrillator inserted as a prevention of further possible dysrhythmia. The paper aims to point out that muscular diseases may involve some other, not uncommonly neglected accompanying symptoms.
- Myotonic dystrophy type 1 (MD1) is an autosomal dominant disease affecting both striated and smooth muscle. Clinical symptomatology of the disease includes not only muscular manifestations but also other symptoms resulting, in particular, from the involvement of the heart, eyes, central nervous system or some endocrine glands. A case report is presented of a boy who was diagnosed with asymptomatic MD1 at the age of ten years old. In the subsequent period, he had not been under neurological observation and had never undergone cardiological evaluation. At the age of 17, he had collapsed during sports and was found to have severe ventricular fibrillation. Subsequently, the boy underwent a comprehensive evaluation and had an implantable cardioverter-defibrillator inserted as a prevention of further possible dysrhythmia. The paper aims to point out that muscular diseases may involve some other, not uncommonly neglected accompanying symptoms. (cs)
- Myotonická dystrofie typ 1 (MD1) je autosomálně dominantní onemocnění příčně pruhované i hladké svaloviny. Klinická symptomatologie choroby zahrnuje nejen svalové projevy, ale další příznaky pramení z postižení zejména srdce, očí, centrálního nervového systému nebo některých žláz s vnitřní sekrecí. V kazuistice je prezentován chlapec, u kterého byla v 10 letech diagnostikována asymptomatická MD1. V dalším období pak nebyl nejen neurologicky sledován, ale ani nikdy kardiologicky vyšetřen. V 17 letech při sportu zkolaboval a byla u něho zaznamenána závažná fibrilace komor. Následně byl chlapec komplexně vyšetřen a jako prevence další možné dysrytmie mu byl zaveden implantabilní kardioverter defibrilátor. Sdělení má připomenout, že svalová onemocnění mohou mít i některé jiné, nezřídka opomíjené doprovodné projevy. (en)
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| Title
| - Ventricular fibrillation as an initial clinical manifestation of myotonic dystrophy (en)
- Fibrilace komor - první klinický projev myotonické dystrofie
- Fibrilace komor - první klinický projev myotonické dystrofie (cs)
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| skos:prefLabel
| - Ventricular fibrillation as an initial clinical manifestation of myotonic dystrophy (en)
- Fibrilace komor - první klinický projev myotonické dystrofie
- Fibrilace komor - první klinický projev myotonické dystrofie (cs)
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| skos:notation
| - RIV/65269705:_____/11:#0001500!RIV12-MZ0-65269705
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/65269705:_____/11:#0001500
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Burešová, Miroslava
- Ryzí, Marie
- Ryzí, Michal
- Vít, Pavel
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