Difference between revisions of "Duchenne muscular dystrophy"
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{{Infobox comorbidity | {{Infobox comorbidity | ||
| other_names = | | other_names = DMD | ||
| image = | | image = | ||
| caption = | | caption = | ||
| anesthetic_relevance = | | anesthetic_relevance = High | ||
| anesthetic_management = High risk for hyperkalemia, rhabdomyolysis, arrhythmia, difficult airway, respiratory insufficiency, and cardiomyopathy | |||
| specialty = | | specialty = | ||
| signs_symptoms = | | signs_symptoms = Proximal muscle weakness, respiratory insufficiency, and cardiomyopathy | ||
| diagnosis = | | diagnosis = | ||
| treatment = | | treatment = | ||
| Line 13: | Line 14: | ||
===Preoperative optimization<!-- Describe how this comorbidity may influence preoperative evaluation and optimization of patients. -->=== | ===Preoperative optimization<!-- Describe how this comorbidity may influence preoperative evaluation and optimization of patients. -->=== | ||
-Electrolyte normalization especially potassium | |||
-Cardiac testing including ECHO and EKG | |||
-Pulmonary testing if not mechanically ventilated including PFTs | |||
-thorough airway exam | |||
===Intraoperative management<!-- Describe how this comorbidity may influence intraoperative management. -->=== | ===Intraoperative management<!-- Describe how this comorbidity may influence 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. <ref>Echeverry-Marín, Piedad Ceciliaa; Bustamante-Vega, Ángela Maríab Anesthetic implications of muscular dystrophies, Colombian Journal of Anesthesiology: July-September 2018 - Volume 46 - Issue 3 - p 228-239 | |||
doi: 10.1097/CJ9.0000000000000059 </ref> 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 <ref>Bhutia MP, Pandia MP, Rai A. Anaesthetic management of a case of Duchenne muscle dystrophy with Moyamoya disease. ''Indian J Anaesth''. 2014;58(2):219-221. doi:10.4103/0019-5049.130843</ref> | |||
-Sugammadex use has not been fully established however it has minimal adverse cardiovascular events. In direct contrast, neostigmine may trigger acute myotonia, rhabdomyolysis, and arrhythmia. | |||
-The risk of malignant hyperthermia is similar to that of the general population <ref>Birnkrant DJ, Panitch HB, Benditt JO, et al. American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. ''Chest'' 2007; 132:1977–1986.</ref>. The clinical presentation can be similar to MH (muscle rigidity, hyperkalemia, arrhythmia, cardiac arrest) however it fails to respond to dantrolene. | |||
===Postoperative management<!-- Describe how this comorbidity may influence postoperative management. -->=== | ===Postoperative management<!-- Describe how this comorbidity may influence postoperative management. -->=== | ||
-High sensitivity to opiates and higher risk for post op respiratory depression | |||
-NSAIDs should be used carefully due to the risk of triggering rhabdomyolysis | |||
-Consider transporting to ICU intubated, delaying extubation 24 to 48 hours, or consider the use of non-invasive mechanical ventilation | |||
==Related surgical procedures<!-- List and briefly describe any procedures which may be performed specifically to treat this comorbidity or its sequelae. If none, this section may be removed. -->== | ==Related surgical procedures<!-- List and briefly describe any procedures which may be performed specifically to treat this comorbidity or its sequelae. If none, this section may be removed. -->== | ||
Surgical airway including tracheostomy | |||
==Pathophysiology<!-- Describe the pathophysiology of this comorbidity. Add subsections as needed. -->== | ==Pathophysiology<!-- Describe the pathophysiology of this comorbidity. Add subsections as needed. -->== | ||
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. | 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. | ||
== Signs and symptoms == | == Signs and symptoms == | ||
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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. | 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. | ||
==Diagnosis<!-- Describe how this comorbidity is diagnosed. -->== | ==Diagnosis<!-- Describe how this comorbidity is diagnosed. -->== | ||
| Line 41: | Line 72: | ||
===Prognosis<!-- Describe the prognosis of this comorbidity -->=== | ===Prognosis<!-- Describe the prognosis of this comorbidity -->=== | ||
Survival of these patients is generally only 20 to 30 years, and they ultimately succumb to ventilatory failure or heart failure. | |||
==Epidemiology<!-- Describe the epidemiology of this comorbidity -->== | ==Epidemiology<!-- Describe the epidemiology of this comorbidity -->== | ||
Latest revision as of 22:14, 1 June 2022
| Other names | DMD |
|---|---|
| Anesthetic relevance |
High |
| Anesthetic management |
High risk for hyperkalemia, rhabdomyolysis, arrhythmia, difficult airway, respiratory insufficiency, and cardiomyopathy |
| Specialty | |
| Signs and symptoms |
Proximal muscle weakness, respiratory insufficiency, and cardiomyopathy |
| Diagnosis | |
| Treatment | |
| Article quality | |
| Editor rating | |
| User likes | 0 |
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. [1] 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 [2]
-Sugammadex use has not been fully established however it has minimal adverse cardiovascular events. In direct contrast, neostigmine may trigger acute myotonia, rhabdomyolysis, and arrhythmia.
-The risk of malignant hyperthermia is similar to that of the general population [3]. The clinical presentation can be similar to MH (muscle rigidity, hyperkalemia, arrhythmia, cardiac arrest) however it fails to respond to dantrolene.
Postoperative management
-High sensitivity to opiates and higher risk for post op respiratory depression
-NSAIDs should be used carefully due to the risk of triggering rhabdomyolysis
-Consider transporting to ICU intubated, delaying extubation 24 to 48 hours, or consider the use of non-invasive mechanical ventilation
Related surgical procedures
Surgical airway including tracheostomy
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.
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.
Diagnosis
Treatment
Medication
Surgery
Prognosis
Survival of these patients is generally only 20 to 30 years, and they ultimately succumb to ventilatory failure or heart failure.
Epidemiology
References
- ↑ Echeverry-Marín, Piedad Ceciliaa; Bustamante-Vega, Ángela Maríab Anesthetic implications of muscular dystrophies, Colombian Journal of Anesthesiology: July-September 2018 - Volume 46 - Issue 3 - p 228-239 doi: 10.1097/CJ9.0000000000000059
- ↑ Bhutia MP, Pandia MP, Rai A. Anaesthetic management of a case of Duchenne muscle dystrophy with Moyamoya disease. Indian J Anaesth. 2014;58(2):219-221. doi:10.4103/0019-5049.130843
- ↑ Birnkrant DJ, Panitch HB, Benditt JO, et al. American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. Chest 2007; 132:1977–1986.