Overview
- Central Core Disease (CCD): A congenital myopathy characterized by central cores in muscle fibers on biopsy.
- Associated with mutations in the RYR1 gene, which encodes the skeletal muscle ryanodine receptor.
- Inheritance:
- Traditionally Autosomal Dominant (AD) with variable penetrance.
- Recessive inheritance recognized, especially in severe cases.
- De novo mutations are common.
Clinical Features
-
Typical Phenotype:
- Onset: Infancy.
- Symptoms:
- Weakness, hypotonia, and poor muscle bulk.
- Proximal musculature and lower extremities most affected.
- Mild facial and neck weakness.
- Extraocular muscles typically spared.
- Motor milestones:
- Delayed but most achieve ambulation.
- Musculoskeletal deformities:
- Kyphoscoliosis.
- Congenital hip dislocation.
- Pes cavus and pes planus.
- Thoracic deformities.
- Respiratory insufficiency: Rare.
- Cardiac involvement: None.
- Cognition: Normal intellectual performance.
-
Clinical Spectrum:
- Asymptomatic individuals with isolated hyper-CKemia or mild skeletal deformity.
- Severe infantile forms:
- Profound weakness and hypotonia.
- Neonatal respiratory failure.
- Arthrogryposis.
-
RYR1-Related Myopathy Spectrum:
- Overlap with multiminicore disease and other core myopathies.
- Evolution of pathological changes from multiminicores to central cores in the same patient.
-
Associated Conditions:
- Malignant Hyperthermia (MH):
- CCD is allelic to MH susceptibility.
- Anesthetic precautions are critical:
- Avoid triggering agents (e.g., volatile anesthetics, succinylcholine).
- Use non-triggering anesthesia and have dantrolene available.
- Malignant Hyperthermia (MH):
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