Anaesthesia recommendations for Recessive myotonia congenita
(Becker's disease)

J 2019

Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease)

ŠTOURAČ, Petr a Martina KOSINOVÁ

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

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30223 Anaesthesiology

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Odkazy

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

Změněno: 11. 5. 2020 10:18, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

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. Dostupné z: https://dx.doi.org/10.19224/ai2019.S545.

@article{1587776,
   author = {Štourač, Petr and Kosinová, Martina},
   article_location = {EBELSBACH},
   article_number = {11},
   doi = {http://dx.doi.org/10.19224/ai2019.S545},
   keywords = {INDUCED NEUROMUSCULAR BLOCK; MALIGNANT HYPERTHERMIA; SUGAMMADEX; ROCURONIUM; NEOSTIGMINE; PARTURIENT; REVERSAL},
   language = {eng},
   issn = {0170-5334},
   journal = {ANASTHESIOLOGIE & INTENSIVMEDIZIN},
   title = {Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease)},
   url = {http://dx.doi.org/10.19224/ai2019.S545},
   volume = {60},
   year = {2019}
}

TY  - JOUR
ID  - 1587776
AU  - Štourač, Petr - Kosinová, Martina
PY  - 2019
TI  - Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease)
JF  - ANASTHESIOLOGIE & INTENSIVMEDIZIN
VL  - 60
IS  - 11
SP  - „S545“-„S553“
EP  - „S545“-„S553“
PB  - AKTIV DRUCK & VERLAG GMBH
SN  - 01705334
KW  - INDUCED NEUROMUSCULAR BLOCK
KW  - MALIGNANT HYPERTHERMIA
KW  - SUGAMMADEX
KW  - ROCURONIUM
KW  - NEOSTIGMINE
KW  - PARTURIENT
KW  - REVERSAL
UR  - http://dx.doi.org/10.19224/ai2019.S545
L2  - http://dx.doi.org/10.19224/ai2019.S545
N2  - 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.
ER  -

ŠTOURAČ, Petr a Martina KOSINOVÁ. Anaesthesia recommendations for Recessive myotonia congenita (Becker's disease). \textit{ANASTHESIOLOGIE \&{}amp; INTENSIVMEDIZIN}. EBELSBACH: AKTIV DRUCK \&{} VERLAG GMBH, 2019, roč.~60, č.~11, s.~„S545“-„S553“, 9 s. ISSN~0170-5334. Dostupné z: https://dx.doi.org/10.19224/ai2019.S545.

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