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Congenital myasthenic syndrome 17(CMS17)

MedGen UID:
895078
•Concept ID:
C4225377
•
Disease or Syndrome
Synonyms: CMS17; MYASTHENIC SYNDROME, CONGENITAL, 17
 
Gene (location): LRP4 (11p11.2)
 
Monarch Initiative: MONDO:0014578
OMIM®: 616304

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. [from MONDO]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
•Concept ID:
C0232466
•
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
See: Feature record | Search on this feature
Hyporeflexia
MedGen UID:
195967
•Concept ID:
C0700078
•
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature
Difficulty walking
MedGen UID:
86319
•Concept ID:
C0311394
•
Finding
Reduced ability to walk (ambulate).
See: Feature record | Search on this feature
Type 1 muscle fiber predominance
MedGen UID:
344274
•Concept ID:
C1854387
•
Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
See: Feature record | Search on this feature
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
MedGen UID:
892749
•Concept ID:
C4021728
•
Finding
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
See: Feature record | Search on this feature
Ptosis
MedGen UID:
2287
•Concept ID:
C0005745
•
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
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

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
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
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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
Primary periodic paralyses.
Finsterer J
Acta Neurol Scand 2008 Mar;117(3):145-58. Epub 2007 Nov 20 doi: 10.1111/j.1600-0404.2007.00963.x. PMID: 18031562
Congenital myasthenic syndromes.
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

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
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
Brain 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. PMID: 37721175Free PMC Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H
Brain 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. PMID: 37186601Free PMC Article
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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
Congenital myasthenic syndromes.
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

Therapy

Rapsyn congenital myasthenic syndrome worsened by fluoxetine.
Visser AC, Laughlin RS, Litchy WJ, Benarroch EE, Milone M
Muscle Nerve 2017 Jan;55(1):131-135. Epub 2016 Aug 10 doi: 10.1002/mus.25244. PMID: 27397848
Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.
Tsao CY
Pediatr Neurol 2016 Jan;54:85-7. Epub 2015 Nov 6 doi: 10.1016/j.pediatrneurol.2015.09.019. PMID: 26552645
Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel DOK7 Mutation.
Lozowska D, Ringel SP, Winder TL, Liu J, Liewluck T
J Clin Neuromuscul Dis 2015 Dec;17(2):72-7. doi: 10.1097/CND.0000000000000095. PMID: 26583494
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V
Neurology 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. PMID: 19949040

Prognosis

Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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
Posterior Segment Characterization in Children With Pierson Syndrome.
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Incidence and Ocular Features of Pediatric Myasthenias.
Mansukhani SA, Bothun ED, Diehl NN, Mohney BG
Am J Ophthalmol 2019 Apr;200:242-249. Epub 2019 Jan 14 doi: 10.1016/j.ajo.2019.01.004. PMID: 30653958Free PMC Article
Pregnancy in congenital myasthenic syndrome.
Servais L, Baudoin H, Zehrouni K, Richard P, Sternberg D, Fournier E, Eymard B, Stojkovic T
J Neurol 2013 Mar;260(3):815-9. Epub 2012 Oct 30 doi: 10.1007/s00415-012-6709-x. PMID: 23108489
Congenital myasthenic syndromes.
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

Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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
Posterior Segment Characterization in Children With Pierson Syndrome.
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Yang K, Cheng H, Yuan F, Meng L, Yin R, Zhang Y, Wang S, Wang C, Lu Y, Xi J, Lu Q, Chen Y
Medicine (Baltimore) 2018 Apr;97(17):e0347. doi: 10.1097/MD.0000000000010347. PMID: 29702980Free PMC Article
A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H
J Clin Neuromuscul Dis 2017 Mar;18(3):147-151. doi: 10.1097/CND.0000000000000132. PMID: 28221305Free PMC Article
Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article

Recent systematic reviews

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ
Cochrane Database Syst Rev 2014 Dec 17;2014(12):CD010028. doi: 10.1002/14651858.CD010028.pub2. PMID: 25515947Free PMC Article

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