Congenital Myasthenic Syndromes (CMS)

CMS — Paul Brehm, Ph.D.

Paul Brehm, senior scientist at Oregon Health Science University in Portland, was awarded an MDA research grant totaling $351,648 over three years to study the underlying mechanisms of movement disorders in some forms of congenital myasthenic syndromes (CMS).

CMS — Michael Francis

Michael Francis, associate professor in the department of neurobiology at the University of Massachusetts Medical School in Worcester, received an MDA grant totaling $330,000 for research into effects on the connection between nerve and muscle known as the neuromuscular junction, or NMJ, in congenital myasthenic syndrome (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.

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