Congenital Myasthenic Syndromes (CMS)

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Signs and Symptoms

As its name implies, congenital myasthenic syndromes (CMS) usually have a congenital (at or near birth) onset, but the disease can manifest in children and even in adults. The different types vary in the kind and degree of symptoms, but generally speaking, the earlier the symptoms appear, the more pronounced the disease is likely to be.

Types of CMS

Presynaptic CMS

This type of CMS is characterized by insufficient release of ACh (a chemical necessary for proper muscle function). It commonly manifests as CMS with episodic apnea (CMS-EA), which has its onset in infancy and causes weakness of the facial muscles and those involved in swallowing and talking, as well as episodes of apnea, a temporary cessation of breathing.

Overview

What are congenital myasthenic syndromes (CMS)?

Illustration of the neuromuscular junction
CMS results from genetic flaws at the neuromuscular junction — where the nerve cell meets the muscle cell.

Congenital Myasthenic Syndromes

Description: 

MDA leads the search for treatments and therapies for congenital myasthenic syndromes (CMS). The Association also provides comprehensive supports and expert clinical care for those living with CMS.

In this section, you’ll find up-to-date information about congenital myasthenic syndromes, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

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