Central Core Disease of Muscle

Alternative Names

  • CCD
  • CCO
  • Minicore Myopathy, Moderate, with Hand Involvement
  • Multicore Myopathy, Moderate, with Hand Involvement
  • Multiminicore Disease, Moderate, with Hand Involvement
  • Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber
  • CNMDU1

Associated Genes

Ryanodine Receptor 1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

117000

Mode of Inheritance

Autosomal dominant

Gene Map Locus

19q13.2

Description

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia. Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability . Some patients can present in utero or at birth with severe congenital myopathy. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
117000.1LebanonMale Hypotonia; Delayed gross motor developm...NM_000540.2:c.8758C>THeterozygousAutosomal, DominantNair et al. 2018
117000.2United Arab EmiratesMaleNoYes Multiple joint contractures; Scoliosis; ...NM_000540.3:c.13505A>GHeterozygousAutosomal, DominantMu et al. 2019
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