Transcription of 埜中 配布資料.ppt [互換モード] - neurology-jp.org
1 54 1) Floppy infant Gowers sign)2) , CT/MRI EMG3) 4) , , , Down Prader-Willi Ehlers-Danlos AMC*, laminopathy *AMC: arthrogryposis multiplex congenita (Spinal muscular atrophy: SMA) SMA 1 (Werdnig-Hoffmann 2 SMA 2 ( intermediate form) SMA 3(Kugelberg-Welander (SMA 4)SMN2 SMN1 SMN1 SMN2 SMN2 SMN1 SMN1 SMN2 SMN2 I II III SMN SMN1 SMN1 SMN2 SMN2 SMN1 SMN1 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2 SMN1 SMN1 SMN2 SMN2 SMN2 SMN2 SMN2 SMN2100%20%20%30%40% (Wirth-B, et al.
2 , 2006 ) facial muscle weakness) (+) V 1) (nemaline myopathy)2) (central core disease)3) (CFTD*)4) (myotubular myopathy)5) (centronuclear myopathy) *CFTD: congential fiber type disproportion myopathy (9q31) 10 1-2 12-3 CT/MRI: (polymicrogyria) CK 10-30 Pompe CK CT/MRI CTMRI T1 MRI T2 (floppy infant) CK CT/MRI
