Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. (18th April 2018)

• Record Type: Journal Article
• Authors: Giron, Camille; Roze, Emmanuel; Degos, Bertrand; Méneret, Aurélie; Jardel, Claude; Lannuzel, Annie; Mochel, Fanny
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 8(2018)
• Publication Date: 2018-04-18
• Subjects: MEGDEL syndrome -- SERAC1 -- adult -- dystonia -- Leigh syndrome; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D8VM5VBQ
• Languages: English
• ISSNs: 2160-8288

Abstract

Background: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. Phenomenology Shown: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. Educational Value: Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.