Congenital myopathies

Malignant hyperthermia (MH) and exertional rhabdomyolysis (ERM) have long been considered as episodic phenotypes occurring in healthy individuals with RYR1 mutations in response to external triggers. Recent studies have shown evidence for continuous neuromuscular and multisystem features in these patients. There is a histopathological overlap with MH/ERM and myopathies, and patients with MH-associated RYR1 mutations can present with prominent axial weakness later in life. Animal studies have shown bleeding disorders and an immunological gain of function due to MH/ERM related RYR1 mutations.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: L. van den Bersselaar, N. Kruijt, S. Buckens, L. Joosten, G. Scheffer, L. van Eijk, J. Kusters, B. van Engelen, N. van Alfen, S. Riazi, S. Treves, H. Jungbluth, E. Kamsteeg, M. Snoeck, N. Voermans Source Type: research