56. Jahrgang - Supplement Nr. 1 - Januar 2015
OrphanAnesthesia
A. Funnell
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Schlüsselwörter
Emery-Dreifuss Muscular Dystrophy (EDMD); ICD 10: G71.0; Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene)
Keywords
Emery-Dreifuss Muscular Dystrophy (EDMD); ICD 10: G71.0; Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene)
Zusammenfassung
Dieser Beitrag enthält keine Zusammenfassung
Summary
Joint contractures (Achilles tendons, elbows and spine). Posterior neck and lower back involvement may result in a rigid spine.
Humeroperoneal muscle weakness by adolescence, later involving the proximal limb girdles.
Cardiac conduction abnormalities (PR prolongation & complete heart block), atrial and ventricular arrhythmias and dilated cardiomyopathy usually beginning in the 2nd – 3rd decade of life.
