Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

ABSTRACT: Malignant hyperthermia and exertional rhabdomyolysis have conventionally been considered episodic phenotypes that occur in otherwise healthy individuals in response to an external trigger. However, recent studies have demonstrated a clinical and histopathological continuum between patients with a history of malignant hyperthermia susceptibility and/or exertional rhabdomyolysis and RYR1-related congenital myopathies. We hypothesize that patients with a history of RYR1-related exertional rhabdomyolysis or malignant hyperthermia susceptibility do have permanent neuromuscular symptoms between malignant hyperthermia or exertional rhabdomyolysis episodes. We performed a prospective cross-sectional observational clinical study of neuromuscular features in patients with a history of

SUBMITTER: van den Bersselaar LR 

PROVIDER: S-EPMC9897183 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature