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A patient presenting with paramyotonia congenita (Eulenburg's paramyotonia) was seen at the preanaesthetic visit during pregnancy. The underlying disease was known for years. Analysis of the literature and advice taken from specialists emphasized the safe use of regional anaesthesia and analgesia which was indeed used for labour and delivery without any complication. By contrast, the limited information available on the use of general anaesthesia suggests the risks associated with the use of succinylcholine and possibly with halogenated agents. Additional and useful factors that may limit the occurrence of myotonic crises such as maintenance of normal temperature and plasma potassium concentration, should be undertaken simultaneously., (Copyright © 2013. Published by Elsevier SAS.)

Introduction: Paramyotonia congenita is an autosomal dominant sodium channelopathy, caused by mutations in gene coding for muscle voltage-gated sodium channel alpha subunit., Case Report: We report the case of a 38-year-old man who described since childhood muscle stiffness with attacks ok weakness induced by two provocative stimuli: cold exposure and exercise. It primarily concerned eyelids and hands, occasionally limbs. Family history suggested an autosomal dominant mode of transmission. Clinical examination revealed myotonia at the thenar eminence percussion. Generalized myotonic discharges were observed on electromyography. Molecular diagnosis reported an Arg1448Cys mutation in exon 24 in gene coding for muscle voltage-gated sodium channel alpha subunit (SCN4A) in chromosome 17., Conclusion: Paramyotonia congenita is not evolutive. Treatment is essentially preventive. Some medications could be proposed: membrane stabilizing agents like antiarrhythmic drugs (mexiletine, tocainide), or the carbonic anhydrase inhibitor (acetazolamide). Precautions may be taken during general anaesthesia because of diaphragm myotonia risk.

We report 13 French patients with proximal myotonic myopathy. PROMM is a recently delineated multisystem disorder with dystrophic myopathy, myotonia and cataracts. This syndrome is genetically distinct from myotonic dystrophy (DM) by the absence of abnormal CTG repeat expansion. The geographical origin varies but 4 families originated from Poland. Of late onset, muscle weakness is diffuse and predominantly affected proximal and axial muscles. Facial involvement and myotonia were moderate or absent, but in all cases myotonic discharges were detected on EMG. 6 patients suffered from myalgia. Cataracts occurred in 11 patients, mainly indistinguishable from those in DM. Cardiac arrythmia occurred in 7 patients. Muscle biopsy revealed rare structural changes of the muscle fibers and selective type I atrophy, common in DM, could not be found on morphometric analysis. PROMM has a distinct clinical spectrum from DM which includes a predominantly proximal muscle weakness, with troubling pain, a more favourable prognosis and a different histopathological pattern.