Abstract:
:Myotonic dystrophy is one of the most common, autosomal dominantly inherited adult-onset muscle disorders. Two types of the disease are known: type 1 is characterized by distal weakness and myotonia, but type 2 is associated with proximal weakness and milder clinical course. It is also called as Steinert Disease, which affects the heart conduction system, the internal secretional glands, the ocular lens as well as carbohydrate-, fat metabolism and gonadal functions. These systemic symptoms have high impact on the quality of life and might impact on patients' survival. Here we would like to emphasize these clinical conditions and the diagnostic possibilities. We hope our recommendations can help neurologists and general practitioners to achieve an optimal and individual care for patients suffering from this muscle disease. Orv Hetil. 2019; 160(37): 1447-1454. :Absztrakt: A dystrophia myotonica az egyik leggyakoribb felnőttkori, autoszomális domináns módon öröklődő izombetegség. Két típusa ismert, az 1-es típusban distalis izomtünetek és myotonia alakul ki, a 2-es típust enyhébb izomtünetek és proximalis dominancia jellemzi. A szerzői néven Steinert-betegségként ismert kórkép a vázizomrendszeren túl elsősorban a szív ingerületképző és -vezető rendszerét, a belső elválasztású mirigyek működését, a szénhidrát- és zsíranyagcserét, a szemlencsét, valamint az ivarmirigyek funkcióját érinti. Az izmok károsodásának tünettana mellett megjelenő egyéb szervi kórállapotok a betegek életminőségét és túlélését jelentősen befolyásolják. Ezért tartjuk szükségesnek, hogy e szempontok figyelembevételével végezzük izombetegeink neurológiai gondozását. Közleményünkben igyekszünk kiemelni e multiszisztémás jellegű betegség klinikai megjelenésének főbb pontjait, valamint a diagnosztikai lehetőségek eszköztárát. Következtetéseink támpontot adhatnak a fenti kórképpel diagnosztizált betegek gondozását végző orvosok számára, az egyénre szabott követés megvalósításához. Orv Hetil. 2019; 160(37): 1447–1454.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Varga D,Pál Edoi
10.1556/650.2019.31505subject
Has Abstractpub_date
2019-09-01 00:00:00pages
1447-1454issue
37eissn
0030-6002issn
1788-6120journal_volume
160pub_type
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