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

Result code in 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>

Alternative codes found

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

Result on the web

<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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Result language

angličtina

Original language name

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

Original language description

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).

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT13725" target="_blank" >NT13725: Management of diagnostics and therapy of swallowing disorders</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Česká a slovenská neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

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Volume of the periodical

77

Issue of the periodical within the volume

1

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

104-108

UT code for WoS article

000331010400017

EID of the result in the Scopus database

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