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Central core disease

Orpha number ORPHA597
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • G71.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness, pronounced in the hip girdle. Orthopaedic complications are common and malignant hyperthermia susceptibility (MHS) is a frequent complication. CCD and MHS are allelic conditions, both caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). The diagnosis of CCD is based on the presence of suggestive clinical features and central cores on muscle biopsy. Muscle MRI may show a characteristic pattern of selective muscle involvement and aid the diagnosis in cases with equivocal histopathological findings. Mutational analysis of the RYR1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to anticipate susceptibility to potentially life-threatening reactions to general anaesthesia. Further evaluation of the underlying molecular mechanisms may provide the basis for future rational pharmacological treatment. In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome.

Expert reviewer(s)

  • Dr Heinz JUNGBLUTH

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Detailed information

Anesthesia guidelines
  • DE (2011,pdf)
  • EN (2011,pdf)
Review article
  • EN (2007)
Guidance for genetic testing
  • EN (2011,pdf)
Clinical genetics review
  • EN (2010)
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