以成人起病的全身性肌张力障碍为主要表现的MEGDEL综合征
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.
作者信息
Giron Camille, Roze Emmanuel, Degos Bertrand, Méneret Aurélie, Jardel Claude, Lannuzel Annie, Mochel Fanny
机构信息
AP-HP, Department of Neurology, La Pitié-Salpêtrière Hospital, Paris, France.
Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18;8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018.
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.
背景
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。
表现出的现象
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。
教育意义
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。
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