Central core disease
Autosomal dominant muscle disorder with risk of malignant hyperthermia.
Last updated
Central core disease (CCD) is an autosomal dominant muscle disorder present from birth, first described by Shy and Magee in 1956. It is characterized by myofibrils that, under microscopy, show cores devoid of mitochondria and specific enzymes. Most cases involve mutations in the ryanodine receptor type 1 gene, and affected individuals are at increased risk for malignant hyperthermia during general anesthesia.
Quick Facts
- Inheritance
- Autosomal dominant
- First described by
- Shy and Magee in 1956
- Associated gene
- RYR1 (ryanodine receptor type 1)
- Typical age of diagnosis
- Infancy or childhood
- Common symptoms
- Hypotonia
- mild developmental delay
- facial weakness
- scoliosis
- hip dislocation
- Risk with anesthesia
- Malignant hyperthermia
- Creatine kinase level
- Normal
Facts from the source article.
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Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Central core disease (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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