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.

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

 

 

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

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
 

Author(s): Constanze Gallenmüller, Wolfgang Müller Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S Müller, Hanns Lochmüller, Angela Abicht

Journal: Neuromuscul. Disord.. 2014 Jan;24(1):31-5.

 

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. In recent years, causative mutations have been identified in atleast 15 genes encoding proteins of the neuromuscular junction. Mutations ...

Last Updated: 15 Jan 2014

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Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
 

Author(s): Keivan Basiri, Katsiaryna Belaya, Wei Wei Liu, Susan Maxwell, Maryam Sedghi, David Beeson

Journal: Neuromuscul. Disord.. 2013 Jun;23(6):469-72.

 

Mutations in DPAGT1 are a newly recognised cause of congenital myasthenic syndrome. DPAGT1 encodes an early component of the N-linked glycosylation pathway. Initially mutations in DPAGT1 have been associated with the onset of the severe multisystem disorder - congenital disorder of ...

Last Updated: 28 May 2013

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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
 

Author(s): Katarzyna Zoltowska, Richard Webster, Sarah Finlayson, Susan Maxwell, Judith Cossins, Juliane Müller, Hanns Lochmüller, David Beeson

Journal: Hum. Mol. Genet.. 2013 Jul;22(14):2905-13.

 

Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the ...

Last Updated: 26 Jun 2013

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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

Expanded Access Study of Amifampridine Phosphate in LEMS, Congenital Myasthenic Syndrome, or Downbeat Nystagmus Patients
 

Status: Available

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

 

Last Updated: 10 Jul 2014

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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 May 2013

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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: 11 Dec 2013

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