Congenital Myasthenic Syndromes (CMS)

BioMarin Seeking US Approval of LEMS Drug

BioMarin Pharmaceutical of Novato, Calif., is conducting a multicenter study of 3,4-diaminopyridinephosphate (3,4-DAP), also known as amifampridine phosphate, in adults with Lambert-Eaton myasthenic syndrome (LEMS).

There are eight U.S. trial sites, with additional sites planned for France, Germany, Italy, Poland and Spain.

Albuterol Improved Quality of Life in Two Forms of CMS

Researchers have found that the drug albuterol appears to be beneficial in two forms of congenital myasthenic syndrome (CMS)— CMS related to mutations in the collagen Q (colQ) gene and CMS related to mutations in the DOK7 gene.

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

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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