Collagen related muscle diseases

COL6-related dystrophies are a form of congenital muscular dystrophy, ranging in phenotype from the severe Ullrich congenital muscular dystrophy (UCMD) to the milder Bethlem muscular dystrophy with intermediate COL6-RD falling in between. COL6-RDs display well-known patterns on muscle MRI including a "central cloud" and "rimming" in the rectus femoris muscle and an "outside-in" pattern in the vastus lateralis muscle; however, MRI cannot routinely be performed in young children without sedation. We conducted a retrospective review of muscle ultrasound (US) performed in our cohort of genetically confirmed COL6-RD patients.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: S. Syeda, M. Mohammed, A. Foley, S. Donkervoort, D. Saade, S. Neuhaus, P. Mohassel, D. Bharucha-Goebel, M. Leach, M. Fink, J. Dastgir, C. B önnemann Source Type: research