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Muscle magnetic resonance imaging in congenital myasthenic syndromes
Author(s) -
Finlayson Sarah,
Morrow Jasper M.,
Rodriguez Cruz Pedro M.,
Sinclair Christopher D.J.,
Fischmann Arne,
Thornton John S.,
Knight Steve,
Norbury Ray,
White Mel,
Alhajjar Michal,
Carboni Nicola,
Jayawant Sandeep,
Robb Stephanie A.,
Yousry Tarek A.,
Beeson David,
Palace Jacqueline
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25035
Subject(s) - magnetic resonance imaging , medicine , abnormality , weakness , muscle weakness , cohort , nuclear medicine , pathology , radiology , anatomy , psychiatry
In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS). Methods 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. Results 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. Conclusions 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. Muscle Nerve 54 : 211–219, 2016