Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI

Desminopathies are a sub group of myofibrillar myopathies typically presenting with distal weakness [1,2]. Myoimaging is a valuable part of the diagnostic work up and monitoring of patients with muscle disease [3]. In both congenital and inflammatory myopathies, myoimaging may reveal a typical pattern of muscle involvement allowing diagnosis or provide an optimal target for muscle biopsy or genetic testing [4,5]. Myofibrillary myopathies are particularly challenging to recognise and diagnose given the variation in clinical symptoms even within individuals harbouring the same pathogenic genetic variant, notably in desminopathies [6 –8].

Source: Neuromuscular Disorders - January 7, 2021 Category: Neurology Authors: Liam S. Carroll, Mark Walker, David Allen, Ciara Marini-Bettolo, Adam Ditchfield, Ashwin A. Pinto, Simon R. Hammans Tags: Case report Source Type: research