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

  1. 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.

  2. Clinical Spectrum:

     • Asymptomatic individuals with isolated hyper-CKemia or mild skeletal deformity.
     • Severe infantile forms:
       • Profound weakness and hypotonia.
       • Neonatal respiratory failure.
       • Arthrogryposis.

  3. 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.

  4. 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.

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  Information

  Published:04 January 2025 Last Updated:04 January 2025