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Muscular channelopathy

MedGen UID:
1842600
•Concept ID:
C5681306
•
Disease or Syndrome
Synonyms: channelopathy of muscle tissue; muscle tissue channelopathy; muscular channelopathy
 
Monarch Initiative: MONDO:0019119
Orphanet: ORPHA71864

Definition

A channelopathy that involves the muscle tissue. [from MONDO]

Professional guidelines

PubMed

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ
Eur J Neurol 2022 Dec;29(12):3486-3507. Epub 2022 Sep 14 doi: 10.1111/ene.15526. PMID: 35971866Free PMC Article
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.
Matthews E, Balestrini S, Sisodiya SM, Hanna MG
Lancet Child Adolesc Health 2020 Jul;4(7):536-547. Epub 2020 Mar 3 doi: 10.1016/S2352-4642(19)30425-0. PMID: 32142633
Open-label trial of ranolazine for the treatment of paramyotonia congenita.
Lorusso S, Kline D, Bartlett A, Freimer M, Agriesti J, Hawash AA, Rich MM, Kissel JT, David Arnold W
Muscle Nerve 2019 Feb;59(2):240-243. Epub 2018 Dec 21 doi: 10.1002/mus.26372. PMID: 30390395Free PMC Article

Recent clinical studies

Etiology

Inherited myotonias.
Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
Maggi L, Bonanno S, Altamura C, Desaphy JF
Cells 2021 Jun 16;10(6) doi: 10.3390/cells10061521. PMID: 34208776Free PMC Article
HERG1 channelopathies.
Sanguinetti MC
Pflugers Arch 2010 Jul;460(2):265-76. Epub 2009 Nov 22 doi: 10.1007/s00424-009-0758-8. PMID: 20544339Free PMC Article
Can inhalation agents be used in the presence of a child with myopathy?
Veyckemans F
Curr Opin Anaesthesiol 2010 Jun;23(3):348-55. doi: 10.1097/ACO.0b013e3283393977. PMID: 20421788
Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.
Lehmann-Horn F, Jurkat-Rott K, Rüdel R; Ulm Muscle Centre
Acta Myol 2008 Dec;27(3):98-113. PMID: 19472919Free PMC Article

Diagnosis

Inherited myotonias.
Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
What Is in the Myopathy Literature?
Lacomis D
J Clin Neuromuscul Dis 2021 Dec 1;23(2):66-74. doi: 10.1097/CND.0000000000000387. PMID: 34808649
Andersen-Tawil Syndrome: A Comprehensive Review.
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Myotonic Disorders and Channelopathies.
Quinn C, Salajegheh MK
Semin Neurol 2015 Aug;35(4):360-8. Epub 2015 Oct 6 doi: 10.1055/s-0035-1558979. PMID: 26502760
Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis.
Latronico N, Bolton CF
Lancet Neurol 2011 Oct;10(10):931-41. doi: 10.1016/S1474-4422(11)70178-8. PMID: 21939902

Therapy

Inherited myotonias.
Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Cannabidiol and Sodium Channel Pharmacology: General Overview, Mechanism, and Clinical Implications.
Ghovanloo MR, Ruben PC
Neuroscientist 2022 Aug;28(4):318-334. Epub 2021 May 24 doi: 10.1177/10738584211017009. PMID: 34027742Free PMC Article
Toxin-Induced Channelopathies, Neuromuscular Junction Disorders, and Myopathy.
Janecek J, Kushlaf H
Neurol Clin 2020 Nov;38(4):765-780. Epub 2020 Sep 12 doi: 10.1016/j.ncl.2020.07.001. PMID: 33040860
Open-label trial of ranolazine for the treatment of paramyotonia congenita.
Lorusso S, Kline D, Bartlett A, Freimer M, Agriesti J, Hawash AA, Rich MM, Kissel JT, David Arnold W
Muscle Nerve 2019 Feb;59(2):240-243. Epub 2018 Dec 21 doi: 10.1002/mus.26372. PMID: 30390395Free PMC Article
Can inhalation agents be used in the presence of a child with myopathy?
Veyckemans F
Curr Opin Anaesthesiol 2010 Jun;23(3):348-55. doi: 10.1097/ACO.0b013e3283393977. PMID: 20421788

Prognosis

Inherited myotonias.
Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Andersen-Tawil Syndrome: A Comprehensive Review.
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis.
Latronico N, Bolton CF
Lancet Neurol 2011 Oct;10(10):931-41. doi: 10.1016/S1474-4422(11)70178-8. PMID: 21939902
Skeletal muscle channelopathies.
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087
Secondary hyperkalaemic paralysis.
Evers S, Engelien A, Karsch V, Hund M
J Neurol Neurosurg Psychiatry 1998 Feb;64(2):249-52. doi: 10.1136/jnnp.64.2.249. PMID: 9489541Free PMC Article

Clinical prediction guides

Inherited myotonias.
Suetterlin K, Mӓnnikkӧ R, Jayaseelan DL
Handb Clin Neurol 2024;203:25-38. doi: 10.1016/B978-0-323-90820-7.00008-2. PMID: 39174252
Andersen-Tawil Syndrome: A Comprehensive Review.
Pérez-Riera AR, Barbosa-Barros R, Samesina N, Pastore CA, Scanavacca M, Daminello-Raimundo R, de Abreu LC, Nikus K, Brugada P
Cardiol Rev 2021 Jul-Aug 01;29(4):165-177. doi: 10.1097/CRD.0000000000000326. PMID: 32947483
Voltage-sensor mutations in channelopathies of skeletal muscle.
Cannon SC
J Physiol 2010 Jun 1;588(Pt 11):1887-95. Epub 2010 Feb 15 doi: 10.1113/jphysiol.2010.186874. PMID: 20156847Free PMC Article
Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?
Matthews E, Hanna MG
J Physiol 2010 Jun 1;588(Pt 11):1879-86. Epub 2010 Feb 1 doi: 10.1113/jphysiol.2009.186627. PMID: 20123788Free PMC Article
Skeletal muscle channelopathies.
Jurkat-Rott K, Lerche H, Lehmann-Horn F
J Neurol 2002 Nov;249(11):1493-502. doi: 10.1007/s00415-002-0871-5. PMID: 12420087

Recent systematic reviews

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF, Altamura C, Vicart S, Fontaine B
J Neuromuscul Dis 2021;8(3):357-381. doi: 10.3233/JND-200582. PMID: 33325393Free PMC Article

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