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Central core disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Central core disease

Central core disease is a muscle disorder characterized by weakness and an increased risk of severe reactions to certain anesthesia drugs.

Overview

Central core disease is a disorder that affects skeletal muscles, which are the muscles used for movement. The condition causes muscle weakness ranging from barely noticeable to very severe, though most people experience persistent, mild weakness that does not worsen over time.

Symptoms

Key features of central core disease include:

  • Weakness in proximal muscles (shoulders, upper legs, and hips)
  • Delayed development of motor skills in infants
  • Muscle pain (myalgia) or extreme fatigue during physical activity (exercise intolerance)
  • Physical abnormalities such as strabismus (eyes not looking in the same direction), a rounded upper back that curves to the side (scoliosis), foot deformities, hip dislocation, and joint contractures
  • In severe cases: facial muscle weakness, profound low muscle tone (hypotonia), and life-threatening breathing problems

Malignant Hyperthermia

Many individuals with central core disease are at risk for malignant hyperthermia, a severe reaction to certain anesthetic gases used during surgery. Symptoms of this reaction include rapid heart rate (tachycardia), high body temperature (hyperthermia), fast breathing (tachypnea), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood (acidosis).

Causes

The condition is caused by mutations in the RYR1 gene, which provides instructions for making the ryanodine receptor 1 protein. This protein forms a channel that releases calcium ions within muscle cells, triggering muscle contraction. Mutations alter the structure of this channel, causing calcium to leak or preventing it from being released when needed, which disrupts normal muscle contraction.

Inheritance

Central core disease is most often inherited in an autosomal dominant pattern, where one copy of the altered gene is sufficient to cause the disorder. It can also be inherited in an autosomal recessive pattern, where both copies of the gene must be mutated.

Frequently Asked Questions

Early signs include a rapid rise in body temperature, unexplained tachycardia, muscle rigidity (especially of the jaw), increased carbon dioxide production, and metabolic acidosis. If suspected, the anesthesiologist should immediately discontinue triggering agents, hyperventilate with 100% oxygen, give intravenous dantrolene (2.5 mg/kg repeated as needed), and initiate active cooling and supportive care.
While there is no cure, regular low‑impact aerobic activity, stretching, and strength‑training under the guidance of a physical therapist can help maintain muscle tone, reduce fatigue, and improve functional mobility. Over‑exertion should be avoided, as it may worsen myalgia.
void volatile inhalational agents (e.g., sevoflurane, desflurane) and the depolarizing muscle relaxant succinylcholine, as they can trigger malignant hyperthermia. Inform your anesthesiologist of the diagnosis well before the procedure so a trigger‑free plan (using total intravenous anesthesia and non‑depolarizing relaxants) can be arranged.
Central core disease is most often inherited in an autosomal‑dominant pattern, meaning a single mutated copy of RYR1 can cause disease, though penetrance is variable. First‑degree relatives should be offered genetic counseling and targeted RYR1 testing to clarify their risk and to guide anesthesia precautions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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