RYR1 centronuclear myopathy (RYR1-CNM)
Evidence-based neurology checklist on ryr1 centronuclear myopathy (ryr1-cnm): Clinical features Hypotonia Motor developmental delay Proximal weakness Ptosis Ophthalmoparesis Facial weakness Bulbar weakness Thoracic deformities Magnetic resonance imaging (MRI): affected muscles Magnetic resonance…
Clinical features
- Hypotonia
- Motor developmental delay
- Proximal weakness
- Ptosis
- Ophthalmoparesis
- Facial weakness
- Bulbar weakness
- Thoracic deformities
Magnetic resonance imaging (MRI): affected muscles
Magnetic resonance imaging (MRI): relatively spared muscles
Muscle biopsy: features
References
- Abath Neto O, Moreno CAM, Malfatti E, et al. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscul Disord 2017; 27:975-985.
- Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68:717-726.
- Jungbluth H, Davis MR, Müller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004; 14:785-790.
