Duchenne muscular dystrophy

Duchenne muscular dystrophy

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Duchenne Muscular Dystrophy (DMD) is an X linked recessive, progressive myopathy resulting form a dystrophin gene mutation. Despite the rarity of this disease it represents a significant anesthetic challenge for both pediatric and adult patients.

Anesthetic implications

Preoperative optimization

-Electrolyte normalization especially potassium

-Cardiac testing including ECHO and EKG

-Pulmonary testing if not mechanically ventilated including PFTs

-thorough airway exam

Intraoperative management

-Anticipate difficult ventilation and intubation due to macroglossia, micrognathia, and highly limited mandible/c spine mobility.

-Patients are at increased risk of hyperthermia, rhabdomyolysis, and hyperkalemia. This risk is theoretically increased with exposure to halogenated inhalational anesthetics.

-They have an absolute contraindication to succinylcholine due to hyperkalemia arrest risk

-Exposure to inhaled anesthetics should be minimized in order to decrease risk of rhabdomyolysis. The use of sevofluorane has been reported for anesthetic induction in patients with muscular dystrophy with no associated complications. A cautious approach, especially in pediatric patients requiring an inhaled induction should be to switch to a TIVA based approach immediately following intubation and IV line placement to theoretically lower the risk of rhabdomyolysis.

-Regional/neuraxial anesthesia is considered safe, but can be significantly more challenging given anatomy.

-Propofol, ketamine, opiates, midazolam have all been utilized safely in these patients.

-Rocuronium is also considered safe however delayed onset of action and prolonged duration have been reported

-Sugammadex use has not been fully established however it has minimal adverse cardiovascular events and is likely safe. In direct contrast, neostigmine may trigger acute myotony, rhabdomyolysis, and arrhythmia.

-The risk of malignant hyperthermia is similar to that of the general population

Pathophysiology

X linked recessive, progressive myopathy resulting form a dystrophin gene mutation. Located on chromosome Xp21. Typically diagnosed during the ages of 3 to 5 and most commonly in males. Survival of these patients is generally only 20 to 30 years, and they ultimately succumb to ventilatory failure or heart failure.

Signs and symptoms

Typically patients present with progressive proximal muscle weakness at a young age, first manifested as weakness and growth delay. This eventually develops into diaphragmatic weakness and subsequent respiratory distress.

Patients develop florid respiratory distress and cardiomyopathy in advanced stage of the disease.

The patients have associated difficult airway anatomy in the form of macroglossia and limited mobility of mandible and cervical spine. They also can develop contractures of bilateral upper and lower extremities.