Tremor and Other Hyperkinetic Movements

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

Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, Fanny Mochel

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.

 


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