Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
OPMD
muscle MRI
muscular dystrophy
oculopharyngeal muscular dystrophy
outcome measures
registro español de enfermedades neuromusculares (NMD-ES)
Journal
Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
04
09
2018
revised:
13
11
2018
accepted:
19
11
2018
pubmed:
12
12
2018
medline:
20
3
2020
entrez:
12
12
2018
Statut:
ppublish
Résumé
Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data. Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue,
Sections du résumé
BACKGROUND AND OBJECTIVE
Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the
METHODS
We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.
RESULTS
Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the
CONCLUSIONS
We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue,
Identifiants
pubmed: 30530568
pii: jnnp-2018-319578
doi: 10.1136/jnnp-2018-319578
doi:
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
576-585Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.