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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.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8VM5VBQ

More About This Work

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