RYR1-related myopathy
A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0019119
muscular channelopathy
is_a
MONDO:0019952
congenital myopathy
is_a
MONDO:0100546
hereditary neuromuscular disease
is_a
RYR1-related disease
broad
RYR1-related disorder
broad
RYR1-related myopathy
exact
neurological muscular channelopathy due to a genetic ryanodine receptor defect
exact