Difference between revisions of "Congenital myasthenic syndromes"
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Congenital myasthenic syndromes (CMS) are a genotypically and phenotypically heterogeneous group of rare neuromuscular disorders that cause impaired neuromuscular transmission. Inheritance can be autosomal dominant or recessive. | |||
== Anesthetic implications<!-- Briefly summarize the anesthetic implications of this comorbidity. --> == | == Anesthetic implications<!-- Briefly summarize the anesthetic implications of this comorbidity. --> == | ||
=== 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. --> === | ||
Preop evaluation may involve planning with a neurologist and geneticist to determine the patient's subtype and what medications may be effective. | |||
=== Intraoperative management<!-- Describe how this comorbidity may influence intraoperative management. --> === | === Intraoperative management<!-- Describe how this comorbidity may influence intraoperative management. --> === | ||
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== Pathophysiology<!-- Describe the pathophysiology of this comorbidity. Add subsections as needed. --> == | == Pathophysiology<!-- Describe the pathophysiology of this comorbidity. Add subsections as needed. --> == | ||
Caused by mutations for proteins involved in neuromuscular transmission (organization, maintenance, function or modification of motor endplate). These mutations result in either gain or loss of function causing a change in the magnitude of the response to acetylcholine. Subtypes are classified based on where the defect occurs: presynaptic, synaptic, and postsynaptic. The most common type is post-synaptic, secondary to a mutation in synaptic vesicles, acetylcholinesterase, or nicotinic acetylcholine receptors. | |||
These differ from [[myasthenia gravis]] and [[Lambert-Eaton syndrome|Lambert-Eaton,]] which are mediated by autoantibodies. | |||
== Signs and symptoms<!-- Describe the signs and symptoms of this comorbidity. --> == | == Signs and symptoms<!-- Describe the signs and symptoms of this comorbidity. --> == | ||
Signs: ophthalmoplegia, ptosis, dysphonia, swallowing disturbance, facial paresis, muscle fatigability, recurrent apnea | |||
Acute respiratory failure may occur triggered by infections episodes | |||
== Diagnosis<!-- Describe how this comorbidity is diagnosed. --> == | == Diagnosis<!-- Describe how this comorbidity is diagnosed. --> == | ||
Tensilon test (EMG with repetitive nerve stimulation), muscle biopsy, genetic analysis may be used to confirm diagnosis. | |||
== Treatment<!-- Summarize the treatment of this comorbidity. Add subsections as needed. --> == | == Treatment<!-- Summarize the treatment of this comorbidity. Add subsections as needed. --> == | ||
=== Medication<!-- Describe medications used to manage this comorbidity. --> === | === Medication<!-- Describe medications used to manage this comorbidity. --> === | ||
Administration of medication without knowing subtype of CMS is unadvised. | |||
Acetylcholinesterase inhibitors are most frequently used, if the subtype is appropriate. 4-diaminopyridine is an alternative, which increases amount of acetylcholine released in the synaptic cleft. | |||
Other medications that may be used include salbutamol, albuterol, ephedrine, fluoxetine, and other experimental choices. | |||
=== Nonmedical therapy<!-- Describe surgical procedures used to treat this comorbidity. --> === | |||
Physiotherapy, speech and occupational therapy, invasive treatment such as feeding tubes and mechanical ventilation may be required. | |||
Unlike in Myasthenia Gravis, plasmapheresis is not effective as the pathology is not due to antibodies. | |||
=== Prognosis<!-- Describe the prognosis of this comorbidity --> === | === Prognosis<!-- Describe the prognosis of this comorbidity --> === | ||
Pregnancy has been reported to exacerbate clinical symptoms. | |||
== Epidemiology<!-- Describe the epidemiology of this comorbidity --> == | == Epidemiology<!-- Describe the epidemiology of this comorbidity --> == | ||
Estimated 1:500,000 prevalence | |||
== References == | == References == | ||
[[Category:Comorbidities]] | [[Category:Comorbidities]] | ||
Latest revision as of 09:49, 7 December 2021
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Congenital myasthenic syndromes (CMS) are a genotypically and phenotypically heterogeneous group of rare neuromuscular disorders that cause impaired neuromuscular transmission. Inheritance can be autosomal dominant or recessive.
Anesthetic implications
Preoperative optimization
Preop evaluation may involve planning with a neurologist and geneticist to determine the patient's subtype and what medications may be effective.
Intraoperative management
Postoperative management
Related surgical procedures
Pathophysiology
Caused by mutations for proteins involved in neuromuscular transmission (organization, maintenance, function or modification of motor endplate). These mutations result in either gain or loss of function causing a change in the magnitude of the response to acetylcholine. Subtypes are classified based on where the defect occurs: presynaptic, synaptic, and postsynaptic. The most common type is post-synaptic, secondary to a mutation in synaptic vesicles, acetylcholinesterase, or nicotinic acetylcholine receptors.
These differ from myasthenia gravis and Lambert-Eaton, which are mediated by autoantibodies.
Signs and symptoms
Signs: ophthalmoplegia, ptosis, dysphonia, swallowing disturbance, facial paresis, muscle fatigability, recurrent apnea
Acute respiratory failure may occur triggered by infections episodes
Diagnosis
Tensilon test (EMG with repetitive nerve stimulation), muscle biopsy, genetic analysis may be used to confirm diagnosis.
Treatment
Medication
Administration of medication without knowing subtype of CMS is unadvised.
Acetylcholinesterase inhibitors are most frequently used, if the subtype is appropriate. 4-diaminopyridine is an alternative, which increases amount of acetylcholine released in the synaptic cleft.
Other medications that may be used include salbutamol, albuterol, ephedrine, fluoxetine, and other experimental choices.
Nonmedical therapy
Physiotherapy, speech and occupational therapy, invasive treatment such as feeding tubes and mechanical ventilation may be required.
Unlike in Myasthenia Gravis, plasmapheresis is not effective as the pathology is not due to antibodies.
Prognosis
Pregnancy has been reported to exacerbate clinical symptoms.
Epidemiology
Estimated 1:500,000 prevalence