Giron Camille, Roze Emmanuel, Degos Bertrand, Méneret Aurélie, Jardel Claude, Lannuzel Annie, Mochel Fanny
AP-HP, Department of Neurology, La Pitié-Salpêtrière Hospital, Paris, France.
Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.
Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18;8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018.
MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset.
Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome.
Generalized dystonia may be the main manifestation of a milder form of MEGDEL syndrome, which begins during adulthood.
MEGDEL综合征（3-甲基戊二酸尿症、耳聋、脑病、Leigh样综合征）是一种起病于婴儿期的严重神经代谢疾病。
一名患有MEGDEL综合征的成年男性在6年时间里出现进行性且明显的肌张力障碍。
全身性肌张力障碍可能是MEGDEL综合征较轻形式的主要表现，该形式始于成年期。
