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What is Congenital Myasthenic Syndromes ?

Congenital Myasthenic Syndromes aregenetic muscular disorders caused by flaws at the neuromuscular junctions.

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Description

Congenital Myasthenic Syndromes aregenetic muscular disorders caused by flaws at the neuromuscular junctions.

Acknowledgement

Acknowledgement of Congenital Myasthenic Syndromes has not been added yet.

Prevalence

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Synonyms

Synonyms for Congenital Myasthenic Syndromes has not been added yet.

Cause

CMS is caused by mutations in many genes. Almost half of the cases are caused by mutations in the CHRNE gene. Other cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. These genes provide instructions for producing proteins involved in the normal function of the neuromuscular junction and gene mutations lead to changes in these proteins and disrupt signaling between the ends of nerve cells and muscle cells. The different groups of CMS have various causes: * Presynaptic CMS is caused by an insufficient release of ACh; * Postsynaptic CMS is caused by receptors that are missing or do not stay open for too long; * Synaptic CMS is caused by a deficiency of acetylcholinesterase, an enzyme that breaks down ACh.

Symptoms

Symptoms for CMS can appear at an early age. The earlier the symptoms appear, the more pronounced the disease may be. Symptoms include: fatigue; Muscle weakness which affects the axial and limb muscles, the ocular muscles, the ocular muscles, and the facial and bulbar musculature, which affects suckling andswallowing. There is weakness in controlling the eyes which can cause droopy eyelids. difficulty in talking, chewing and holding the head up is common. Severe forms of CMS cause extreme weakness which can result in feeding and respiratory problems from birth. Delayed milestones is a common symptom as well. These symptoms can worsen with physical exertion.

Diagnosis

The diagnosis of CMS consists of establishing the diagnosis of a CMS based on the early onset along with familial occurrence and identifying the type of disease based on the mode of transmission, by detecting a repetitive CMAP through single stimulation on an electromyogram, the response to anticholinesterases, and through the studies of endplate morphology as well as molecular analysis.

Diagnostic Test

Diagnostic tests of Congenital Myasthenic Syndromes has not been added yet

Treatment

Treatments for CMS depend on the form of the syndrome. All forms of CMS can be treated with Anticholinesterase, except for slow-channel CMS because of the acetylcholinesterase deficiency. Presynaptic CMS is caused by insufficient release of acetylcholine (ACh) and is treated with cholinesterase inhibitors. Postsynaptic fast-channel CMS is treated with cholinesterase inhibitors and 3, 4-diaminopyridine. Postsynaptic slow-channel CMS is treated with quinidine or fluoxetine to plug the Ach receptor. Ephedrine has proven to be an effective treatment for DOK7 CMS, resulting in impressive strength improvements in patients.

Prognosis

The prognosis for CMS is difficult to evaluate for it depends on the specific type of CMS, the muscles involved, and the age of onset. Only if there is difficulty breathing, swallowing, or feeding for the child, they may have a high risk of pneumonia or respiratory failure. Otherwise weakness is stable over time, it does not worsen. The life-span for most cases which are not compromised of respiratory difficulties is normal.

Tips or Suggestions

Name	Description
mmagsi	Chronic Lymphocytic Leukemia is a difficult disorder to cope with. Patients are suggested to stay healthy and clean. They should do all they can to avoid infections, go to all of their appointments, and reduce the chance of second cancers (by not smoking and drinking alcohol) Emotional support should be given by family for going through treatment can be overwhelming. Physical activities, a good nutrition, and resting are important factors to improve the well-being of the patient. Open conversations about concerns and fears are also helpful. Counselling and medications may aid with emotional distress.

References

References of Congenital Myasthenic Syndromes has not been added yet.

my first connection : CMS Created by isabelle50
Last updated 13 Apr 2014, 07:24 PM

Posted by isabelle50
13 Apr 2014, 07:24 PM

Hello, I am French, mom of a little girl and I am new on the forum. I am sorry for my bad English level. I'm reached by a congenital myasthenic syndrom. For moment, I take ephedrin and mestinon but it's not easy every day ... Is what somebody is touched by this kind of disease ? which treatment do you take ? Thank you for your answer. Isabelle

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Community Resources

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Clinical Trials

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

Complete the screening form.
Review the informed consent.
Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.