Mestinon Use in People with DNM2 Mutations and Centronuclear Myopathy

A recent article highlighted a possible treatment for people with DNM2 mutations and centronuclear myopathy.  The medication is called mestinon (pyridostigmine). It is a medication that works at the neuromuscular junction, where the nerve meets the muscle.   Click here to view/download the article.

The reason people with DNM2 mutations get a muscle condition is still not well understood.

A scientist, Dr. Jim Dowling, created a zebrafish model of DNM2 centronuclear myopathy to try to understand why the muscle is affected. This DNM2 fish swims more slowly than a regular unaffected zebrafish.  Dr. Dowling’s lab was able to confirm that the fish not only appeared to have an abnormal neuromuscular junction, but that adding mestinon to the fish drinking water helped it swim faster.

This article also highlights 5 cases of individuals with DNM2 centronuclear myopathy who have been treated with mestinon.  The treated patients were both on the more severe and milder ends of the DNM2 spectrum. The two adult patients had special testing of the nerve fiber that confirmed a problem with the neuromuscular junction, prior to starting mestinon. The 3 children were started on the mestinon without comprehensive nerve/muscle testing due to their discomfort with the test. All patients described experienced a benefit- including improved strength, speech and decreased fatigue.

Mestinon is a drug that can cause side effects and the dose given needs to be carefully monitored by a neurologist. Some people cannot tolerate mestinon because of the side effects it can cause.  Mestinon is not a cure for DNM2 but may help improve strength and alleviate some of the symptoms. It is used to treat other neurologic disorders.

Please make an appointment with your neurologist or primary care doctor to discuss whether starting mestinon is appropriate for you and whether any additional testing is needed.

The CMDIR would like to hear back from you. If you and your physician decide that there might be a benefit to trying mestinon, we would like to collect some information on symptoms that bother you the most prior to initiating mestinon, the dose of mestinon started, how it is titrated and what effects are noted and measured. Collecting data from everyone who is started on mestinon may help the community develop a better idea as to whether mestinon helps and whether it might be used routinely in people with DNM2.  Please contact about your experience at

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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