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

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.
 

Author(s): Mert Karakaya, Ozge Ceyhan-Birsoy, Alan H Beggs, Haluk Topaloglu

Journal: J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151.

 

Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and ...

Last Updated: 21 Feb 2017

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A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
 

Author(s): Jia-Ze Tan, Yuan Man, Fei Xiao

Journal: Chin. Med. J.. 2016 11;129(21):2596-2602.

 

Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel ...

Last Updated: 25 Oct 2016

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A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.
 

Author(s): Thashi Chang, Judith Cossins, David Beeson

Journal:

 

Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically ...

Last Updated: 8 Oct 2016

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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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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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Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome
 

Status: Available

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

 

Last Updated: 11 May 2017

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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: 31 Jan 2017

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