Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292735" target="_blank" >RIV/00064203:_____/14:10292735 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10292735 RIV/00216275:25520/14:39898500

Výsledek na webu

<a href="http://www.prolekare.cz/en/czech-slovak-neurology-article/stiff-person-syndrome-associated-with-myotonic-dystrophy-type-2-a-case-report-47220" target="_blank" >http://www.prolekare.cz/en/czech-slovak-neurology-article/stiff-person-syndrome-associated-with-myotonic-dystrophy-type-2-a-case-report-47220</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report

Popis výsledku v původním jazyce

Stiff-person syndrome (SPS) is manifested by increased tone of the trunk muscles that gradually spreads to the limbs. The mechanism underlying this muscle hypertonia involves derangement of the inhibitory action of gamma-aminobutyric acid (GABA) at cortical and spinal levels with subsequent continuous motor unit activity. A co-contraction mechanism with a board-like abdomen and painful lumbar hyperlordosis plays an important role. Symptomatic treatment involves drugs that enhance inhibition (baclofen and benzodiazepines). Causal treatment focuses on immunosuppression (corticosteroids, intravenously administered immunoglobulins, and plasmapheresis). A combination of SPS and another genetic disease has not yet been described. We describe a case study ofa 46-year-old man with gradual development of severe SPS whose electromyography (EMG) showed continuous motor unit activity as well as several myotonic discharges. Genetic testing was indicative of myotonic dystrophy type 2 (DM2).

Název v anglickém jazyce

Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report

Popis výsledku anglicky

Stiff-person syndrome (SPS) is manifested by increased tone of the trunk muscles that gradually spreads to the limbs. The mechanism underlying this muscle hypertonia involves derangement of the inhibitory action of gamma-aminobutyric acid (GABA) at cortical and spinal levels with subsequent continuous motor unit activity. A co-contraction mechanism with a board-like abdomen and painful lumbar hyperlordosis plays an important role. Symptomatic treatment involves drugs that enhance inhibition (baclofen and benzodiazepines). Causal treatment focuses on immunosuppression (corticosteroids, intravenously administered immunoglobulins, and plasmapheresis). A combination of SPS and another genetic disease has not yet been described. We describe a case study ofa 46-year-old man with gradual development of severe SPS whose electromyography (EMG) showed continuous motor unit activity as well as several myotonic discharges. Genetic testing was indicative of myotonic dystrophy type 2 (DM2).

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NT13725" target="_blank" >NT13725: Management diagnostiky a terapie poruch polykání</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Česká a slovenská neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

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Svazek periodika

77

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

5

Strana od-do

104-108

Kód UT WoS článku

000331010400017

EID výsledku v databázi Scopus

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