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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540 | PMC |
| http://dx.doi.org/10.7916/D8VM5VBQ | DOI Listing |
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