The benefit of combining clinical and radiological assessments in diagnosis of inherited muscle diseases

Purpose To study the benefit of combining clinical and radiological assessments in the diagnosis of inherited muscle diseases. Subjects and methods This cross sectional study included 45 patients presenting with manifestations of muscle disease. They were subjected to thorough clinical assessment and MRI examination of thigh and leg muscles. Independent clinical and radiological assessments were performed followed by combining the clinical categorization and radiological signs together to assess the strength of collaborating the clinico-radiological assessments in diagnosis of rare muscle diseases. Results Clinical assessment suggested the diagnosis in 42% of the cases and radiological assessment blind to clinical data suggested the diagnosis in 20% of the cases. Combining both was able to suggest the diagnosis in 56% of the cases. Also the radiological assessment supported the clinical diagnosis of some rare muscle diseases uncommonly reported in Egypt. Conclusion Combining clinical and radiological assessments of muscle diseases is helpful to suggest a reliable diagnosis, especially in circumstances where genetic diagnosis is expensive or not accessible.