Central core disease

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Central core disease
ICD-10 G71.2
ICD-9 359.0
OMIM 117000
eMedicine neuro/76 
MeSH D020512

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: Central core myopathy

Overview

Central core disease (CCD) is an autosomal dominant congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956.[1][2]

Signs and symptoms

The symptoms of central core disease are variable, but usually involve hypotonia ("floppy infant") at birth, mild delay in child development (highly variable between cases), weakness of the face muscles, and skeletal malformations such as scoliosis and hip dislocation.[2]

Diagnosis

The diagnosis is made on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes.[2]

Respiratory insufficiency develops in a small proportion of cases. Creatine kinase and electromyography (EMG) tend to be normal.[2]

Pathophysiology

Central core disease has an autosomal dominant pattern of inheritance.

Central core disease is inherited in an autosomal dominant fashion. More than half the cases have demonstrable mutations in the ryanodine receptor type 1 (RYR1) gene, which are often de novo (newly developed). People with CCD are at risk for malignant hyperthermia (MH) when receiving general anesthesia.[2]

Treatment

There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 mutations as these may make them susceptible to MH.[2]

References

  1. Magee KR, Shy GM (1956). "A new congenital non-progressive myopathy". Brain. 79 (4): 610–21. PMID 13396066. 
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Quinlivan RM, Muller CR, Davis M; et al. (2003). "Central core disease: clinical, pathological, and genetic features". Arch. Dis. Child. 88 (12): 1051–5. PMID 14670767. 



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