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Anaesthesia in myotonia congenita Becker

Myotonia congenita Becker is an autosomal recessive disease, non-dystrophic myotonia. The worldwide prevalence of myotonia congenita is about 1:100,000. It is linked to mutations in CLCN1, the gene encoding the skeletal muscle chloride channel. The mutation in Becker’s disease leads to reduced flow of chloride ions during repolarisation leading to sustained muscle contraction. The reduced chloride conductance of the mutated chloride channels in Becker’s myotonia causes hyper-excitability of the muscle fibre membrane leading to bursts of aberrant action potentials. The algorithm will lead you through the anesthesia in patient suffering from this disease from preoperating examination to his awakening. 

Author: Martina Kosinová, MD, PhD, Hrušková Lucia, Janoušová Tereza

Institution: Faculty of Medicine at Masaryk University in Brno

Medical discipline: Emergency Medicine

Keywords: myotonia congenita Becker | monitoring of neuromuscular blockade | anaesthesia

Educational evel: Undergraduate level | Graduate

Myotonia congenita Becker is an autosomal recessive disease, non-dystrophic myotonia. The worldwide prevalence of myotonia congenita is about 1:100,000. It is linked to mutations in CLCN1, the gene encoding the skeletal muscle chloride channel. The mutation in Becker’s disease leads to reduced flow of chloride ions during repolarisation leading to sustained muscle contraction. The reduced chloride conductance of the mutated chloride channels in Becker’s myotonia causes hyper-excitability of the muscle fibre membrane leading to bursts of aberrant action potentials. The algorithm will lead you through the anesthesia in patient suffering from this disease from preoperating examination to his awakening. 


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Review

The algorithm is dedicated to a rare neurological disease, congenital recessive form of myotonia congenita Becker. The algorithm logically leads from the first contact with the patient through the entire perioperative period up to the potential discharge from the hospital. Takes into account all stages of the decision-making process with an emphasis on the key factors that can complicate the health condition of the patient and operating performance. The individual steps of the algorithm are logical and smoothly follow each other. In addition to the correct answers, it suggests a possible common mistakes and incorrect procedure. The specified model belongs among the typical clinical situation. A great advantage of the algorithm is the fact that it confronts the doctor with realistically created situations of rare, but serious, disease. It is possible at any time to "step back" from mistakes which would mean a serious complication in real situation, and it allows to learn and choose the correct procedure. In real life this is not possible. Another advantage of the algorithm is the theoretical information/note, which increases the level of knowledge about this rare disease.

publikováno: 1.6.2018 | last modified on: 2.6.2018