IllnessMalignant hyperthermia/central core disease/multiminicore disease

NGS +

Central core disease affects skeletal muscles and causes mild to severe weakness (which may vary even within the same family). Most patients are able to walk independently, suffer from myalgias and extreme exercise intolerance, strabismus and kyphoscoliosis, hip dislocation and contractures. Affected children may have facial muscle weakness, hypotonia and severe respiratory problems as well as malignant hyperthermia. Central core disease is named for the disorganized areas called central nuclei, typically found in the middle of skeletal muscle cells. These central nuclei are often present in cells with few mitochondria.

Multiminocore disease includes four forms, classic, moderate with hand involvement, antenatal with arthrogryposis multiplex congenita and ophthalmoplegic. More than 70% of patients present with the classic symptoms: neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, respiratory deficits and varying degrees of spinal stiffness. The mode of inheritance is autosomal dominant (or recessive in the case of central core disease).

The DNA diagnostic yield is at least 60%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1146/

• Alias: Hyperthermia of Anesthesia; Malignant Hyperpyrexia; Fulminating Hyperpyrexia 52
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Central core disease (RYR1)
• Hyperthermia of anesthesia (RYR1)
• Malignant hyperthermia susceptibility 1 (RYR1)