Muscle MRI in congenital myasthenic syndromes

Sarah Finlayson; Jasper M Morrow; Pedro M Rodriguez Cruz; Christopher D J Sinclair; Arne Fischmann; John S Thornton; Steve Knight; Ray Norbury; Mel White; Michal Al-Hajjar; Nicola Carboni; Sandeep Jayawant; Stephanie A Robb; Tarek A Yousry; David Beeson; Jacqueline Palace

doi:10.1002/mus.25035

Muscle MRI in congenital myasthenic syndromes

Sarah Finlayson, Jasper M Morrow, Pedro M Rodriguez Cruz, Christopher D J Sinclair, Arne Fischmann, John S Thornton, Steve Knight, Ray Norbury, Mel White, Michal Al-Hajjar, Nicola Carboni, Sandeep Jayawant, Stephanie A Robb, Tarek A Yousry, David Beeson, Jacqueline Palace

School of Psychology

Research output: Contribution to journal › Article › peer-review

Abstract

INTRODUCTION: We investigated muscle MRI 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 T1w score was increased in GFPT1 and DPAGT1 CMS. The T1w scans of the AChR deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images did not significantly differ from controls. Mean T1w score correlated with age in the CMS cohort.

DISCUSSION: 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 have a role in differentiating CMS subtypes. This article is protected by copyright. All rights reserved.

Original language	English
Journal	MUSCLE & NERVE
DOIs	https://doi.org/10.1002/mus.25035
Publication status	Published - 20 Jan 2016

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10.1002/mus.25035

Cite this

@article{44173c332fdf46c3abd86a22f5e1fcaa,

title = "Muscle MRI in congenital myasthenic syndromes",

abstract = "INTRODUCTION: We investigated muscle MRI 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 T1w score was increased in GFPT1 and DPAGT1 CMS. The T1w scans of the AChR deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images did not significantly differ from controls. Mean T1w score correlated with age in the CMS cohort.DISCUSSION: 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 have a role in differentiating CMS subtypes. This article is protected by copyright. All rights reserved.",

author = "Sarah Finlayson and Morrow, {Jasper M} and {Rodriguez Cruz}, {Pedro M} and Sinclair, {Christopher D J} and Arne Fischmann and Thornton, {John S} and Steve Knight and Ray Norbury and Mel White and Michal Al-Hajjar and Nicola Carboni and Sandeep Jayawant and Robb, {Stephanie A} and Yousry, {Tarek A} and David Beeson and Jacqueline Palace",

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year = "2016",

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day = "20",

doi = "10.1002/mus.25035",

language = "English",

journal = "MUSCLE & NERVE",

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T1 - Muscle MRI in congenital myasthenic syndromes

AU - Finlayson, Sarah

AU - Morrow, Jasper M

AU - Rodriguez Cruz, Pedro M

AU - Sinclair, Christopher D J

AU - Fischmann, Arne

AU - Thornton, John S

AU - Knight, Steve

AU - Norbury, Ray

AU - White, Mel

AU - Al-Hajjar, Michal

AU - Carboni, Nicola

AU - Jayawant, Sandeep

AU - Robb, Stephanie A

AU - Yousry, Tarek A

AU - Beeson, David

AU - Palace, Jacqueline

PY - 2016/1/20

Y1 - 2016/1/20

N2 - INTRODUCTION: We investigated muscle MRI 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 T1w score was increased in GFPT1 and DPAGT1 CMS. The T1w scans of the AChR deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images did not significantly differ from controls. Mean T1w score correlated with age in the CMS cohort.DISCUSSION: 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 have a role in differentiating CMS subtypes. This article is protected by copyright. All rights reserved.

AB - INTRODUCTION: We investigated muscle MRI 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 T1w score was increased in GFPT1 and DPAGT1 CMS. The T1w scans of the AChR deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images did not significantly differ from controls. Mean T1w score correlated with age in the CMS cohort.DISCUSSION: 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 have a role in differentiating CMS subtypes. This article is protected by copyright. All rights reserved.

U2 - 10.1002/mus.25035

DO - 10.1002/mus.25035

M3 - Article

C2 - 26789134

SN - 0148-639X

JO - MUSCLE & NERVE

JF - MUSCLE & NERVE

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