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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

Özsoy Ö, Cinleti T, Günay Ç, Sarıkaya Uzan G, Giray Bozkaya Ö, Çağlayan AO, Hız Kurul S, Yiş U
Acta Neurol Belg 2023 Dec;123(6):2325-2335. Epub 2023 Sep 1 doi: 10.1007/s13760-023-02370-3. PMID: 37656362
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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

Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H
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O'Connor K, Spendiff S, Lochmüller H, Horvath R
Int J Mol Sci 2023 May 9;24(10) doi: 10.3390/ijms24108505. PMID: 37239850Free PMC Article
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
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

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
Ramdas S, Beeson D
Neuromuscul Disord 2021 Oct;31(10):943-954. doi: 10.1016/j.nmd.2021.07.400. PMID: 34736634
Iyadurai SJP
Neurol Clin 2020 Aug;38(3):541-552. doi: 10.1016/j.ncl.2020.03.004. PMID: 32703467
Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M, Spiegel R, Chervinsky I, Orenstein N, Engel AG, Nevo Y
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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

Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S
Orphanet J Rare Dis 2024 Mar 12;19(1):113. doi: 10.1186/s13023-024-03116-x. PMID: 38475910Free PMC Article
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
Al-Muhaizea MA, AlQuait L, AlRasheed A, AlHarbi S, Albader AA, AlMass R, Albakheet A, Alhumaidan A, AlRasheed MM, Colak D, Kaya N
Neuromuscul Disord 2020 Jul;30(7):611-615. Epub 2020 May 15 doi: 10.1016/j.nmd.2020.04.007. PMID: 32616363
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645

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
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Am J Hum Genet 2016 Sep 1;99(3):753-761. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.033. PMID: 27569547Free PMC Article
Monies DM, Al-Hindi HN, Al-Muhaizea MA, Jaroudi DJ, Al-Younes B, Naim EA, Wakil SM, Meyer BF, Bohlega S
Neuromuscul Disord 2014 Apr;24(4):353-9. Epub 2014 Jan 4 doi: 10.1016/j.nmd.2013.12.010. PMID: 24461433
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

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