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Muscle magnetic resonance imaging in congenital myasthenic syndromes
Sarah Finlayson MBChB, DPhil1,*, Jasper M. Morrow FRACP2, Pedro M. Rodriguez Cruz MD, MSc1, Christopher D.J. Sinclair PhD2, Arne Fischmann PD, DrMed2, John S. Thornton PhD2, Steve Knight BSc3, Ray Norbury PhD3, Mel White BSc4, Michal Al-hajjar MD1, Nicola Carboni MD, PhD5, Sandeep Jayawant MD, FRCPCh4, Stephanie A. Robb MD6, Tarek A. Yousry DrMed, Habil, FRCR2, David Beeson PhD7 andJacqueline Palace DM1
Article first published online: 22 FEB 2016
Muscle Nerve, 2016
In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS).
Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity.
Overall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort.
MRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes.