Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Giron, Camille; Roze, Emmanuel; Degos, Bertrand; Meneret, Aurelie; Jardel, Claude; Lannuzel, Annie; Mochel, Fanny

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.


Also Published In

Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
February 13, 2019