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Der Nervenarzt
Erschienen in: Der Nervenarzt 12/2004

01.12.2004 | Übersichten

Klinik und Genetik der Gliedergürteldystrophien

verfasst von: PD Dr. J. Finsterer

Erschienen in: Der Nervenarzt | Ausgabe 12/2004

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Zusammenfassung

Gliedergürteldystrophien (limb girdle muscular dystrophies, LGMD) sind genetisch heterogene, primäre Myopathien mit progredienten Paresen und Atrophien im Becken- und Schultergürtelbereich, manchmal mit Ausbreitung auf die bulbäre oder die Atemmuskulatur. Zurzeit werden 6 autosomal-dominante (LGMD1A–F, 10–25%) und 10 autosomal-rezessive Formen (LGMD2A–J, 75–90%) unterschieden. Die Prävalenz beträgt 0,8/100.000. Ursache sind Mutationen in Genen, die für Myotilin (5q31, LGMD1A), Lamin A/C (1q1–q21.2, LGMD1B), Caveolin-3 (3p25, LGMD1C), unbekannte Proteine (7q, LGMD1D, 6q23, LGMD1E, 7q32.1–32.2., LGMD1F), Calpain-3 (15q15.1–21.1, LGMD2A), Dysferlin (2p13.3–13.1, LGMD2B), γ-Sarkoglykan (13q12, LGMD2C), α-Sarkoglykan (17q12–q21.3, LGMD2D), β-Sarkoglykan (4q12, LGMD2E), δ-Sarkoglykan (5q33–q34, LGMD2F), Telethonin (17q11–q12, LGMD2G), E3-Ubiquitin-Ligase (9q31–q34.1, LGMD2H), Fukutin-related-Protein (19q13.3, LGMD2I) oder Titin (2q31, LGMD2J) kodieren. Die Krankheit beginnt zwischen der frühen Kindheit und dem mittleren Erwachsenenalter. Das Geschlechterverhältnis ist ausgeglichen. Progredienz und Lebenserwartung sind äußerst variabel. Die Diagnose basiert primär auf der DNA-Analyse. Anamnese, Neurostatus, Blutchemie, Elektromyographie und Muskelbiopsie liefern zusätzlich wertvolle Information. Derzeit kann nur symptomatisch behandelt werden.
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Metadaten
Titel
Klinik und Genetik der Gliedergürteldystrophien
verfasst von
PD Dr. J. Finsterer
Publikationsdatum
01.12.2004
Erschienen in
Der Nervenarzt / Ausgabe 12/2004
Print ISSN: 0028-2804
Elektronische ISSN: 1433-0407
DOI
https://doi.org/10.1007/s00115-004-1769-5

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