U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital myasthenic syndrome(CMS)

MedGen UID:
155650
Concept ID:
C0751882
Disease or Syndrome
Synonyms: CMS; Congenital Myasthenic Syndromes
SNOMED CT: Congenital myasthenia (230672006); Congenital myasthenic syndrome (230672006); Congenital myasthenia syndrome (230672006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): MYO9A (15q23); SLC25A1 (22q11.21); SLC5A7 (2q12.3)
Related genes: DOK7, COLQ, SCN4A, GFPT1, CHRNE, CHRNA1, CHAT
 
Monarch Initiative: MONDO:0018940
OMIM® Phenotypic series: PS601462
Orphanet: ORPHA590

Definition

Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).

Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Dejthevaporn C, Wetchaphanphesat S, Pulkes T, Rattanasiri S, Engel AG, Witoonpanich R
J Clin Neurosci 2022 Feb;96:85-89. Epub 2022 Jan 6 doi: 10.1016/j.jocn.2021.12.016. PMID: 34999496
Nicolau S, Milone M, Liewluck T
Muscle Nerve 2021 Sep;64(3):255-269. Epub 2021 Jun 16 doi: 10.1002/mus.27337. PMID: 34133031
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645

Recent clinical studies

Etiology

Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E
Eur J Neurol 2022 Mar;29(3):833-842. Epub 2021 Nov 17 doi: 10.1111/ene.15173. PMID: 34749429
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Prior DE, Ghosh PS
J Child Neurol 2021 Jul;36(8):610-617. Epub 2021 Jan 20 doi: 10.1177/0883073820987755. PMID: 33471587
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Shieh PB, Oh SJ
Neurol Clin 2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007. PMID: 29655455

Diagnosis

Rathore G, Kang PB
Pediatr Neurol 2023 Dec;149:1-14. Epub 2023 Aug 29 doi: 10.1016/j.pediatrneurol.2023.08.034. PMID: 37757659
Bodkin C, Comer A, Felker M, Gutmann L, Jones KA, Kincaid J, Payne KK, Skinner B
Semin Neurol 2022 Dec;42(6):716-722. Epub 2022 Nov 23 doi: 10.1055/a-1985-0230. PMID: 36417990
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E
Eur J Neurol 2022 Mar;29(3):833-842. Epub 2021 Nov 17 doi: 10.1111/ene.15173. PMID: 34749429
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Statland J, Phillips L, Trivedi JR
Neurol Clin 2014 Aug;32(3):801-15, x. Epub 2014 May 9 doi: 10.1016/j.ncl.2014.04.002. PMID: 25037091

Therapy

Eshaghian T, Rabbani B, Badv RS, Mikaeeli S, Gharib B, Iyadurai S, Mahdieh N
Neurogenetics 2023 Jul;24(3):189-200. Epub 2023 May 25 doi: 10.1007/s10048-023-00719-7. PMID: 37231228
Shao S, Shi G, Bi FF, Huang K
Curr Neuropharmacol 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. PMID: 36703579Free PMC Article
Gül Mert G, Özcan N, Hergüner Ö, Altunbaşak Ş, Incecik F, Bişgin A, Ceylaner S
Acta Neurol Belg 2021 Apr;121(2):529-534. Epub 2019 Nov 26 doi: 10.1007/s13760-019-01246-9. PMID: 31773638
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
Palace J
Ann N Y Acad Sci 2012 Dec;1275:49-53. doi: 10.1111/j.1749-6632.2012.06779.x. PMID: 23278577

Prognosis

Bodkin C, Comer A, Felker M, Gutmann L, Jones KA, Kincaid J, Payne KK, Skinner B
Semin Neurol 2022 Dec;42(6):716-722. Epub 2022 Nov 23 doi: 10.1055/a-1985-0230. PMID: 36417990
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Gül Mert G, Özcan N, Hergüner Ö, Altunbaşak Ş, Incecik F, Bişgin A, Ceylaner S
Acta Neurol Belg 2021 Apr;121(2):529-534. Epub 2019 Nov 26 doi: 10.1007/s13760-019-01246-9. PMID: 31773638
Dowling JJ, D Gonorazky H, Cohn RD, Campbell C
Am J Med Genet A 2018 Apr;176(4):804-841. Epub 2017 Sep 10 doi: 10.1002/ajmg.a.38418. PMID: 28889642Free PMC Article
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858

Clinical prediction guides

Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y
Ann Clin Transl Neurol 2021 Apr;8(4):898-907. Epub 2021 Mar 23 doi: 10.1002/acn3.51346. PMID: 33756069Free PMC Article
Nicolau S, Kao JC, Liewluck T
Muscle Nerve 2019 Dec;60(6):648-657. Epub 2019 Sep 10 doi: 10.1002/mus.26676. PMID: 31449669
McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H
J Neurol 2018 Jan;265(1):194-203. Epub 2017 Nov 30 doi: 10.1007/s00415-017-8689-3. PMID: 29189923Free PMC Article
Karmouch J, Dobbertin A, Sigoillot S, Legay C
Chem Biol Interact 2013 Mar 25;203(1):287-91. Epub 2012 Oct 23 doi: 10.1016/j.cbi.2012.10.006. PMID: 23089045
Palace J
Ann N Y Acad Sci 2012 Dec;1275:49-53. doi: 10.1111/j.1749-6632.2012.06779.x. PMID: 23278577

Recent systematic reviews

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...