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.