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Detailed information of CENTRAL CORE DISEASE
CENTRAL CORE DISEASE
DEFINITION:
A congenital myopathy characterized by generalized hypotonia,
muscle weakness, and cental cores on muscle biopsy.
EPIDEMIOLOGY:
- incidence: ?
- age of onset:
- risk factors:
- familial - autosomal dominant
- chrom.#: 19q13.1
- gene: ryanodine receptor (RYR1)
- M = F
PATHOGENESIS:
- mutation of the ryanodine receptor -> two clinical
phenotypes:
- Central Core Disease
- Malignant Hyperthermia
- that Central Core Disease and Malignant Hyperthermia are
both associated with mutations in the RYR1 gene was first
demonstra-ted by Zhang et al., Nature Genetics 5(1):46-50 (1993)
and Quane et al., Nature Genetics 5(1): 51-55 (1993)
PATHOLOGY:
- within muscle fibres
- 20-100% of fibres within a biopsy may have central cores
- within cores absence of:
- myofibrils (change in myosin ATPase)
- mitochrondia (lack of oxidative capacity - SDH & NADH)
- glycogen (lack of glycolytic capacity - phosphorylase)
2. Others
- loss of muscle fibres
- predominance of type 1 fibres
- proliferation of adipose tissue
CLINICAL FEATURES:
- infantile hypotonia
- muscle weakness and wasting
- facial muscles, neck flexors, proximal and trunk muscles
- generalized or limited to a muscle group
- nonprogressive and not severely disabling although there may
be some gross motor developmental delay
2. Others
- malignant hyperthermia
- skeletal deformities
- congenital dislocation of the hips, kyphoscoliosis
INVESTIGATIONS:
2. EMG
MANAGEMENT:
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Pediatric Database - CENTRAL CORE DISEASE
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