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Start free with EleplanCentral core disease
ORPHA:597Disease
What it is
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
Key facts
- Prevalence
- 1-9 / 1 000 000 (United Kingdom)
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
16- Central core regions in muscle fibers
- Congenital hip dislocation
- Easy fatigability
- Hypotonia
- Joint hypermobility
- Kyphoscoliosis
- Malignant hyperthermia
- Mitral valve prolapse
- Motor delay
- Multiple joint contractures
- Muscle stiffness
- Myopathy
- Pelvic girdle muscle weakness
- Pes planus
- Talipes equinovarus
- Type 1 muscle fiber predominance
Sometimes5–29%
4These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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