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Below are descriptions of treatments, interventions and other means tried with varying levels of success to help manage the manifestations of Myotubular Myopathy. It should be noted that none of these reflect a "cure" for the disease. The disease is an arrestment in muscle development, a flaw in the structure of the muscle itself. A cure will only come about through genetic research into the responsible gene, its role in muscle development and, ultimately, development of a means to correct the gene or replicate its role. For more items, see the newsletters elsewhere in these pages. Our disclaimer, which appears at the bottom of every page, is nowhere more important than here. Please read it before proceeding. DISCLAIMER: This information is provided by the Myotubular Myopathy Resource Group, Inc. solely as a service for interested parties. This is a lay interpretation and should not be considered definitive by any means. This discussion draws largely from the sources cited as well as the personal observations of the authors. We are neither doctors nor experts nor do we pretend to be. Any decisions on medical treatments, interventions, courses of action, etc. should be made by the appropriate family members in consultation with the available literature and qualified medical professionals. Good sense should always prevail.The authors, contributors or the Myotubular Myopathy Resource Group, Inc. assumes no responsibility for the use of the information, observations or opinions presented herein. These items are grouped as follows: Respiratory Respiratory complications very, very frequently accompany MTM. In cases where the affects of the myopathy are severe, respiratory issues are very critical. In these cases, it is common to see
Th importance of keeping people with compromised respiratory systems away from colds, the flu and other respiratory illnesses cannot be overstated. During the winter, RSV (respiratory syncytial virus) is a particular threat, especially to very young children with neuromuscular diseases. In some years, it is common for Pediatric ICUs to fill up with kids suffering (and we do mean suffering) from RSV. There is an RSV vaccine available but it is not totally effective, difficult to administer and very expensive. Consult your physician. One of the best sources on information on respiratory issues for people with neuromuscular diseases (including MTM) is the booklet, Breathe Easy, Respiratory Care for Children with Muscular Dystrophy. This publication is available from the Muscular Dystrophy Association. They can be contacted at their website, http://www.mdausa.org or as follows:
Our experiences often show that the kids that may be at most risk are those that have significant respiratory complications but are not compromised enough to warrant a tracheostomy and a ventilator. Problems arise when these kids get sick. Their respiratory system is not strong enough to support them in the face of serious pneumonia. Although we don't have solid statistics, it is our opinion that, outside the neonatal period, mortality for these kids is higher than for any other group. There are no magic bullets and we certainly don't advocate a tracheostomy except where it is clearly warranted but we do want to make it clear that all MTM patients, even (or especially) those without trachs should be watched closely and aggressively treated at the first sign of respiratory problems. Some of these kids without tracheostomies use negative pressure chambers. (These are the successors to what many people used to call an "iron lung.") These chambers are generally used at night and while resting. Below are a few photos of one of a negative pressure chamber. (Click on the images to see them full sized.)
Another technology successfully employed by some families is the use of TES, a device which uses an electrical stimulation to improve muscle function. Click here for more information on this device.
Kids diagnosed with X-linked MTM, have shown a tendency to have a number of other disorders. These disorders include spherocytosis, peliosis, elevated liver enzymes, gallstones and others. As described in a recent article, these accompanying disorders are too frequent not to be related to the myopathy. Given all these unusual disorders, Dr. Herman recommends a number of tests. Consider discussing the following with your son's doctor:
Eyedrops, such as Celluvisc TM during the day and Refresh PMTM at night to relieve dryness caused by diminished blinking (during the day) and incomplete eye closure (at night)
Many MTM patients have severe problems with scoliosis. Therapies attempted include back braces and various types of surgery. For more information see the Scoliosis page on this website.
Spherocytosis is a disorder of the red blood cells in which they are weaker than normal thus causing them to take on a spherical (as opposed to their normal saucer-like) shape. It is a relatively common hereditary disorder in it's own right; however, it has now been positively linked to X-linked MTM. People with spherocytosis are extremely susceptible to anemia, hemolysis, enlargement of the spleen, reticulocytocis and mild jaundice. One therapy to control spherocytosis is with a daily dosage of Folic Acid.
Peliosis of the Liver is a condition where small cysts form in the liver. These cysts can rupture causing massive internal bleeding. This bleeding is life threatening if not treated absolutely immediately. Several children has died from this; even though they received prompt medical attention. If you or your physician suspect that there may be liver problems, it is important to follow up on this. If a case is known of suspected to be x-linked, it might be prudent to do some follow-up and investigation even if there are no other indications. PLEASE MAKE YOUR PHYSICIANS AWARE OF THESE FINDINGS AND ENCOURAGE THEM TO CONSULT THE AVAILABLE LITERATURE OR OTHER PHYSICIANS WITH EXPERIENCE IN THIS MATTER. We cannot overstate how important this is!
This is a tough one that gets more difficult as kids get older. We would especially welcome some ideas or some strategies that have worked. One suggestion is to look for opportunities and activities where the disabled child can participate on an equal footing with unaffected friends. Several families have found that video games such as Nintendo or Play Station offer this opportuity. Although it seems a little strange to actually recommend these for kids (You usually hear all about the evils of these things!), many affected children are able to compete and participate in these with little or no adaptations. Also, unfortunately, these kids will spend quite a bit of time by themselves. While of course there are more constructive and educational things to do, these games can provide an easy, accessible means of entertainment and helps keep kids on a cultural common ground with their unaffected peers. The key here, as in most things, is moderation in making sure that these activities don't completely crowd out things that are apparently more constructive.
We invite any feedback, questions or additions you have on this list!
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