Central core disease. Clinical features in 13 patients

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Central core disease (CCD) is a congenital myopathy characterized by specific histopathological findings.
• Understanding the clinical variability and associated risks is crucial for patient management.

Observation:

• A study reviewed 13 patients with CCD and compared them to 62 from literature.
• Clinical presentation ranged from asymptomatic to severe muscle weakness and atrophy.
• Musculoskeletal deformities were common but did not significantly alter disease progression.

Findings:

• Muscle weakness progression in CCD is typically slow.
• Cardiac abnormalities, including mitral valve prolapse and arrhythmias, are rarely reported.
• Susceptibility to malignant hyperthermia was confirmed in all tested CCD patients, highlighting a critical association.

Implications:

• Patients with CCD should be considered at risk for malignant hyperthermia.
• In-vitro contracture testing is recommended to rule out malignant hyperthermia susceptibility.
• Comprehensive management should address potential cardiac and musculoskeletal issues alongside neuromuscular deficits.