Myotone Dystrophie Typ 2/proximale myotone Myopathie

Zusammenfassung

Die myotone Dystrophie Typ 2 ist eine autosomal-dominant vererbte, multisystemische Erkrankung. Klinische Hauptmerkmale sind proximale Paresen und Atrophien, Myotonie und Katarakt. Eine Vielzahl assoziierter Symptome in wechselnder Ausprägung ist beschrieben worden, darunter Schmerzen der Muskulatur, Erhöhung der CK und der Leberwerte, Glukose-Intoleranz bzw. Diabetes mellitus und andere endokrine Auffälligkeiten, Hörstörungen, kognitive Defizite, Veränderungen der weißen Substanz in der MRT und möglicherweise Herzmuskelbeteiligung. Im Vergleich mit der myotonen Dystrophie Typ 1 (Curschmann-Steinert-Dystrophie) ist der Verlauf deutlich milder. Auslöser ist eine Mutation im ZNF9 Gen auf Chromosom 3. Die Funktion dieses Gens und der Pathomechanismus, der zu dem komplexen Phänotyp dieser Erkrankung führt, ist nicht bekannt. Spekuliert wird, dass toxische RNA-Foci über Beeinflussung der Translation negativ auf ZNF9 und benachbarte Gene wirken. Die Diagnose kann molekulargenetisch durch Nachweis der Mutation gestellt werden. Eine kausale Therapie steht nicht zur Verfügung, neben der Operation der Katarakt steht Physiobzw. Ergotherpie im Vordergrund.

Summary

Myotonic dystrophy type 2 is an autosomal dominant, multisystemic disorder characterized by atrophy and weakness of proximal muscles, myotonia and cataract. A number of associated symptoms has been described including muscle pain, elevation of creatine kinase activity and liver enzymes, glucose intolerance or diabetes mellitus and other endocrine abnormalities, hearing impairment, cognitive deficits, white matter lesions on MRI and possible cardiac involvement. In comparison with myotonic dystrophy type 1 (Curschmann-Steinert Disease) the clinical course is less severe. A disease causing mutation has been identified in the gene ZNF9 on chromosome 3. The role of ZNF9 as well as the mechanism leading to disease is not well understood. It is speculated that toxic RNA foci have deleterious effects on ZNF9 and neighbouring genes leading to the complex phenotype of this disease. Mutation analysis can confirm the diagnosis. The therapeutic options are limited, operation of cataract and regular physical therapy are recommended.

Schlüsselwörter

Myotone Dystrophie - PROMM - DM2 - Übersicht

Keywords

Myotonic dystrophy - PROMM - DM2 - review

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