Central core myopathy

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Classification according to ICD-10
G71.2 Congenital myopathies
central fibril myopathy (central core disease)
ICD-10 online (WHO version 2019)
Central core myopathy with disorders of the intermyofibrillary oxidative network in the NADH staining.

As a central core disease (central core disease, central core disease , CCD), a rare muscle disease from the group of congenital myopathies referred, which was first described in 1956.

clinic

Clinically, muscle hypotonia ( floppy infant ) and delayed motor development can be found from birth . However, most of those affected develop the ability to walk independently. In the foreground is a weakness of the thigh and hip muscles; It is not uncommon for orthopedic problems such as hip dislocation or scoliosis to appear. The usually only slightly progressive , static course is noticeable . Of particular clinical importance is the fact that patients with central core myopathy are often predisposed to malignant hyperthermia , a disease that can appear as a life-threatening complication of inhalation anesthesia .

Histology and genetics

In the muscle biopsy , especially in the enzyme histochemical staining for NADH, disorders of the intermyofibrillary oxidative network with central, bright spots (cores) are characteristic. In the majority of cases, the disease is inherited as an autosomal dominant trait with varying penetrance. This is mainly due to mutations in the RYR1 gene coding for a ryanodine receptor .

Individual evidence

  1. ↑ H. Jungbluth: Central core disease. In: Orphanet Journal of Rare Diseases. 2007, 2, p. 25. PMID 17504518 (review article) (full text)
  2. ^ KR Magee, GM Shy: A new congenital non-progressive myopathy. In: Brain. 1956; 79, pp. 610-621. PMID 13396066
  3. ^ Y. Zhang et al.: A mutation in the human ryanodine receptor gene associated with central core disease. In: Nature Genet. 1993; 5, pp. 46-50. PMID 8220422

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