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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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:

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
 

Author(s): Kunfang Yang, Hongyi Cheng, Fang Yuan, Linyi Meng, Rongrong Yin, Yuanfeng Zhang, Simei Wang, Chunmei Wang, Yanfen Lu, Jiaming Xi, Qin Lu, Yucai Chen

Journal: Medicine (Baltimore). 2018 Apr;97(17):e0347.

 

Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular ...

Last Updated: 31 Dec 1969

Go To URL
New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report.
 

Author(s): Huiru Feng, Hongyu Zhou

Journal: Medicine (Baltimore). 2017 Dec;96(51):e8981.

 

Congenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in nicotinic acetylcholine receptors (AChRs). Defects in the cholinergic receptor nicotinic delta subunit (CHRND) gene can cause a series of myasthenic syndromes. Here, we ...

Last Updated: 31 Dec 1969

Go To URL
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.
 

Author(s): Mallory C Shields, Matthew R Bowers, McKenzie M Fulcer, Madelyn K Bollig, Patrick J Rock, Bryan R Sutton, Alysia D Vrailas-Mortimer, Hanns Lochm├╝ller, Roger G Whittaker, Rita Horvath, Noreen E Reist

Journal:

 

During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly ...

Last Updated: 31 Dec 1969

Go To URL

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: 31 Dec 1969

Go To URL
 
 
Top

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: 10 Jan 2018

Go to URL
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

Go to URL
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

Go to URL