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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General Support Organizations

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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 50 free, full-text research articles on human participants. First 3 results:

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
 

Author(s): Karima Habbout, Hugo Poulin, François Rivier, Serena Giuliano, Damien Sternberg, Bertrand Fontaine, Bruno Eymard, Raul Juntas Morales, Bernard Echenne, Louise King, Michael G Hanna, Roope Männikkö, Mohamed Chahine, Sophie Nicole, Said Bendahhou

Journal: Neurology. 2016 Jan;86(2):161-9.

 

To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient.

Last Updated: 12 Jan 2016

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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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SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
 

Author(s): Mohammad Alinoor Rahman, Yoshiteru Azuma, Farhana Nasrin, Jun-ichi Takeda, Mohammad Nazim, Khalid Bin Ahsan, Akio Masuda, Andrew G Engel, Kinji Ohno

Journal:

 

The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ. Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified ...

Last Updated: 18 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
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

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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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: 12 Oct 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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