ŠTOURAČ, Petr a Martina KOSINOVÁ. Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease). ANASTHESIOLOGIE & INTENSIVMEDIZIN. EBELSBACH: AKTIV DRUCK & VERLAG GMBH, 2019, roč. 60, č. 11, s. „S545“-„S553“, 9 s. ISSN 0170-5334. doi:10.19224/ai2019.S545.
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Základní údaje
Originální název Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease)
Autoři ŠTOURAČ, Petr (203 Česká republika, garant, domácí) a Martina KOSINOVÁ (203 Česká republika, domácí).
Vydání ANASTHESIOLOGIE & INTENSIVMEDIZIN, EBELSBACH, AKTIV DRUCK & VERLAG GMBH, 2019, 0170-5334.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30223 Anaesthesiology
Stát vydavatele Německo
Utajení není předmětem státního či obchodního tajemství
WWW URL
Impakt faktor Impact factor: 0.840
Kód RIV RIV/00216224:14110/19:00111592
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.19224/ai2019.S545
UT WoS 000496930900001
Klíčová slova anglicky INDUCED NEUROMUSCULAR BLOCK; MALIGNANT HYPERTHERMIA; SUGAMMADEX; ROCURONIUM; NEOSTIGMINE; PARTURIENT; REVERSAL
Štítky 14110322, rivok
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Mgr. Tereza Miškechová, učo 341652. Změněno: 11. 5. 2020 10:18.
Anotace
Becker's disease is an autosomal recessive type of myotonia congenita, non-dystrophic myotonia, first described in the 1970s by Peter Emil Becker [1]. The worldwide prevalence of myotonia congenita is about 1:100,000 while in some countries (e.g. Norway) the incidence may be 10 times higher [2,3]. It is linked to mutations in CLCN1 (the same as the autosomal dominant in Thomsen's disease), the gene encoding the skeletal muscle chloride channel. The mutation in Becker's disease leads to a reduced flow of chloride ions during repolarisation leading to sustained muscle contraction [4]. The reduced chloride conductance of the mutated chloride channels in Becker's myotonia causes hyperexcitability of the muscle fibre membrane leading to bursts of aberrant action potentials. The clinical picture is characterised by slowed relaxation following forceful voluntary contractions (myotonic stiffness). Myotonia tends to improve with exercise, the so-called 'warm-up' phenomenon. It usually presents during the first or second decade of life with slow progression in later decades. Symptoms are more severe than in Thomsen's disease and usually involve the lower limbs first. Muscle hypertrophy is a common symptom. Sometimes it is accompanied by gradually progressive weakness and by peculiar transient episodes of proximal weakness, involving the hands and arm muscles in particular, and is connected to specific types of mutations [5]. More than 150 different mutations of the CLCN1 gene have been reported, some of them are associated with Becker's disease (recessive form, more severe) and others to Thomsen's disease (dominant form, milder). Laboratory diagnostics of myotonia congenita is based on sequencing the CLCN1 gene. Identification of mutations in the CLCN1 gene in the patient and parents differentiate between the two clinical forms of the disease. Since the disease shares symptoms with paramyotonia congenita and other diseases with myotonia, the pool of genes involved in the differential diagnosis is large enough to sequence all of them at the same time, currently by the new techniques of sequencing (NGS). In addition to searching for a diagnosis based on NGS sequencing, some of the genes related to malignant hyperthermia (mainly RYR1 and CACNA1S genes) should be analysed if patients with myotonia congenita or any other of myopathy who are facing surgery.
VytisknoutZobrazeno: 19. 3. 2024 03:55