Congenital myasthenic syndrome

Common Name(s)

Congenital myasthenic syndrome, Congenital myasthenia

Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital myasthenic syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital myasthenic syndrome" returned 45 free, full-text research articles on human participants. First 3 results:

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
 

Author(s): Clare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, David A Parry, Susan Maxwell, Pilar Martínez-Martínez, Joey Riepsaame, Zakia A Abdelhamed, Alice V R Lake, Maria Moran, Stephanie Robb, Gabriel Chow, Caroline Sewry, Philip M Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A Johnson, David Beeson

Journal: Am. J. Hum. Genet.. 2015 Dec;97(6):878-85.

 

The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital ...

Last Updated: 7 Dec 2015

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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
 

Author(s): Katsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E Farrugia, Richard Petty, Timothy J Walls, Maryam Sedghi, Keivan Basiri, Wyatt W Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson

Journal: Brain. 2015 Sep;138(Pt 9):2493-504.

 

Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. ...

Last Updated: 25 Aug 2015

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A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
 

Author(s): Marina Dusl, Jan Senderek, Juliane S Müller, Johannes G Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht

Journal: Hum. Mol. Genet.. 2015 Jun;24(12):3418-26.

 

Mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic syndrome (LG-CMS). One recurrent GFPT1 mutation detected in LG-CMS patients is a c.*22C>A transversion in the 3'-untranslated region ...

Last Updated: 20 May 2015

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Reviews from the PubMed Database

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The terms "Congenital myasthenic syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Congenital myasthenic syndrome: report of four cases and brief review of literature.
 

Author(s): G A Khwaja, D Chowdhury, M Gupta

Journal: Neurol India. 2000 Sep;48(3):266-71.

 

The term 'congenital myasthenic syndrome' (CMS) encompasses a number of heterogeneous disorders characterised by myasthenic symptoms since birth, usually with positive family history and absence of acetyl choline receptor antibodies. Recent advances in electrophysiology and ultrastructural ...

Last Updated: 3 Nov 2000

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients
 

Status: Available

Condition Summary: Lambert-Eaton Myasthenic Syndrome; Congenital Myasthenic Syndrome; Downbeat Nystagmus

 

Last Updated: 13 May 2016

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3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)
 

Status: Recruiting

Condition Summary: Lambert-Eaton Myasthenic Syndrome; Congenital Myasthenic Syndrome

 

Last Updated: 22 Jun 2016

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3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
 

Status: Available

Condition Summary: Lambert-Eaton Myasthenic Syndrome (LEMS); Congenital Myasthenia (CM)

 

Last Updated: 20 Apr 2015

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