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

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.prolekare.cz/en/czech-slovak-neurology-article/stiff-person-syndrome-associated-with-myotonic-dystrophy-type-2-a-case-report-47220
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 of a 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). 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 of a 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). (en)
Title	Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report (en)
skos:prefLabel	Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report Stiff-person Syndrome Associated with Myotonic Dystrophy Type 2-a Case Report (en)
skos:notation	RIV/00216208:11130/14:10292735!RIV15-MSM-11130___
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Zámečník, Josef
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	47511
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/14:10292735
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	stiff-person syndrome; myotonic dystrophy; immunoglobulins; GABAergic inhibition; co-contraction (en)
http://linked.open.../riv/klicoveSlovo	myotonic dystrophy GABAergic inhibition co-contraction stiff-person syndrome immunoglobulins
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[841F1EB31892]
http://linked.open...i/riv/nazevZdroje	Česká a slovenská neurologie a neurochirurgie
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	77
http://linked.open...iv/tvurceVysledku	Zámečník, Josef Ehler, E. Kopal, A. Mandysova, P. Vojtisek, P.
http://linked.open...ain/vavai/riv/wos	000331010400017
issn	1210-7859
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software