Central core disease (CCD)
Evidence-based neurology checklist on central core disease (ccd): Genetics This is caused by mutations in the ryanodine receptor 1 (RYR1) gene The transmission is autosomal dominant or recessive Phenotypes Early features Neurological features Orthopaedic features Other features Other…
Genetics
- This is caused by mutations in the ryanodine receptor 1 (RYR1) gene
- The transmission is autosomal dominant or recessive
Phenotypes
Early features
Neurological features
Orthopaedic features
Other features
Other investigations
Management
References
- Cassandrini D, Trovato R, Rubegni A, et al; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr 2017; 43:101.
- North KN, Wang CH, Clarke N, et al; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014; 24:97-116.
- Fusto A, Cassandrini D, Fiorillo C, et al. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. Acta Neuropathol Commun 2022; 10:54.
- Wu S, Ibarra MC, Malicdan MC, et aI. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 2006; 129:1470-1480.
- Jungbluth H. Central core disease. Orphanet J Rare Dis 2007; 2:25.
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