Muscle magnetic resonance imaging in congenital myasthenic syndromes.

ABSTRACT:

Introduction

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

SUBMITTER: Finlayson S 

PROVIDER: S-EPMC4982021 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature