Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Muscle Nerve
; 54(2): 211-9, 2016 08.
Article
em En
| MEDLINE
| ID: mdl-26789134
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 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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Imageamento por Ressonância Magnética
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Músculo Esquelético
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Síndromes Miastênicas Congênitas
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Reino Unido