Artículo de revista
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Fecha
2019Registro en:
Journal of Neurology, Neurosurgery and Psychiatry, Volumen 90, Issue 5, 2019, Pages 576-585
1468330X
00223050
10.1136/jnnp-2018-319578
Autor
Alonso-Jimenez, Alicia
Kroon, Rosemarie H.M.J.M.
Alejaldre-Monforte, Aida
Nuñez-Peralta, Claudia
Horlings, Corinne G.C.
Van Engelen, Baziel G.M.
Olive, Montse
González, Laura
Verges-Gil, Enric
Paradas, Carmen
Márquez, Celedonio
Garibaldi, Matteo
Gallano,
Institución
Resumen
© Author(s) (or their employer(s)) 2019.Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. 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 adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively w