Last update: 23/05/2006
Background to disease
OMIM #11700 (RYR1 gene OMIM *180901)
Central core disease (CCD) is a rare congenital myopathy. Histological specimens are characterised by an abundance of cores exclusively in type 1 skeletal muscle fibres which reflect areas of mitochondrial depletion and sarcomere disorganisation. Affected patients may present with muscle hypotonia, pronounced proximal weakness, delayed motor development, elevated CK, congenital hip displacement and scoliosis. The disease demonstrates considerable phenotypic variability. As many as 40% of patients showing histological signs may be clinically asymptomatic.
CCD is related to multi minicore disease (MmD), and is the primary condition, which is associated and allelic with the pharmacogenetic disorder malignant hyperthermia (MH). CCD patients are therefore at risk from MH (see MH entry).
Inheritance is predominantly autosomal dominant although some autosomal recessive cases have been documented. Sporadic cases have been reported on several occasions.
Mutations in RYR1, SEPN1, MYH7, ACTA1, TNNT1 have been reported in cases of CCD. However, RYR1, which encodes the skeletal muscle ryanodine receptor calcium release channel is the major susceptibility locus. The C-terminal region of the gene, which encodes the channel pore, appears to be a CCD mutation hot-spot.
Laboratory Analysis
Testing is performed on individuals clinically affected with disease, or in cases where histological examination of a muscle biopsy specimen has indicated presence of cores.
Contact scientist: Rachel Robinson
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Test |
Target reporting time (working days) |
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| 1. |
Sequence analysis of exons 95, 100, 101, 102, 103, 104 of the RYR1 genea |
40 |
| 2. | Predictive testing where familial mutation known | 10 |
aScreening of the above exons will detect up to ~67% of mutations in RYR1 reported in association with CCD