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Summary Orofacial granulomatosis is an uncommon clinicopathological entity describing patients who have oral lesions characterized by persistent and/or recurrent labial enlargement, oral ulcers and a variety of other orofacial features, who on lesional biopsy have lymphoedema and non‐caseating granulomas. The aetiology of oral lesions with non‐caseating granulomas includes oral Crohn's disease (some patients with oral lesions will develop typical bowel symptoms of Crohn's disease in ensuing months to years), tooth‐associated infections, sarcoidosis and food or contact allergies. Treatment of orofacial granulomatosis is not reliably effective and may not be always necessary, although most patients do require some medical intervention.

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Background and objectiveDysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.MethodsWe present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed.ResultsIn 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialis and the soleus being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsThe information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials.Clinical trial registrationNCT01676077.

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