| Title : Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome - Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
| Author(s) : Giron C , Roze E , Degos B , Meneret A , Jardel C , Lannuzel A , Mochel F |
| Ref : Tremor Other Hyperkinet Mov (N Y) , 8 :554 , 2018 |
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Abstract :
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. |
| PubMedSearch : Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
| PubMedID: 29686941 |
| Gene_locus related to this paper: human-SERAC1 |
| Mutation | V451fs_human-SERAC1 P533L_human-SERAC1 |
| Gene_locus | human-SERAC1 |
| Disease | MEGDEL syndrome |
Giron C, Roze E, Degos B, Meneret A, Jardel C, Lannuzel A, Mochel F (2018)
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Tremor Other Hyperkinet Mov (N Y)
8 :554
Giron C, Roze E, Degos B, Meneret A, Jardel C, Lannuzel A, Mochel F (2018)
Tremor Other Hyperkinet Mov (N Y)
8 :554