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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
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

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
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
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

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A
Clin Dysmorphol 2023 Oct 1;32(4):162-167. Epub 2023 Jun 19 doi: 10.1097/MCD.0000000000000465. PMID: 37646703
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
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
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
Differential diagnosis of myasthenic syndromes.
Ishpekova B, Milanov I
Electromyogr Clin Neurophysiol 2001 Jan-Feb;41(1):17-21. PMID: 11234561

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
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
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
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
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Chevessier F, Girard E, Molgó J, Bartling S, Koenig J, Hantaï D, Witzemann V
Hum Mol Genet 2008 Nov 15;17(22):3577-95. Epub 2008 Aug 21 doi: 10.1093/hmg/ddn251. PMID: 18718936

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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