New Book about a Family with Myotonic Dystrophy

There are not many books about myotonic dystrophy. There is a fictional series about a skater that has myotonic dystrophy. I wrote a short book about the hopes and aspirations of my son “The boy who was President”. Now comes a great biography about a family with Myotonic Dystrophy. A must read for all with the disease. Here’s a short introduction:

As a young girl, my constant goal was to help my brother, Dustin, walk. Dustin’s limits were hard to gauge because he constantly surpassed expectations. He was born with congenital myotonic dystrophy and expected to die, then to live three months, then three years. Instead, he gained strength and capabilities until age 13, when he had a simple cold and just did not wake up from his nap. His body became too much for the largest muscle in his body, his heart.

While Dustin was alive, I threw quarters in wells, prayed every night, and practiced with him every day after he had surgery and got corrective braces. I would stretch my brother’s legs, rotate his ankles, do resistance exercises and help him practice standing. At age 12, I thought willpower was so strong that, through perseverance and dedication, I could will my brother to walk.

Three years older than my brother, I grew up doing adult caretaking tasks. Through the years, I would change thousands of diapers, brush Dustin’s teeth, lift him into bed, administer nebulizer treatments, clean his feeding tube, watch him when both my parents had to work, bathe him, unload his wheelchair from the bus and play with him. Most things I did for my brother were helpful, but with my conceptions about willpower and Dustin walking, I pushed my brother past his comfort level more than once and caused more pain than progress. For me, a healthy sibling, willpower was a tool to push past obstacles. However, the same view I took of my young healthy body proved detrimental to my brother’s and caused him pain.

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News from 1966 – Mental Retardation and Myotonic Dystrophy

A recent republished article appeared in Pediatrics. Dr. Calderon described 6 cases of Congential Myotonic Dystrophy that had global delay. He also complied 55 cases 53 or which had global developmental delay. The diagnosis were by muscle biopsy then no DNA tests were available. The information urged using this as a differential diagnosis.

Below is the PDF of the article

Mental Retardation and Myotonic Dystrophy 1966

Autism Spectrum Disorder in Congential and Childhood Myotonic Dystrophy

Issues and problems with children that have congenital or juvenile myotonic dystrophy are many and hard to pin down. One of the most asked questions is about Autism and do children with Congenital Myotonic Dystrophy have Autism or Autism spectrum disorder. The basic criteria more are defined below for Autism like Features are before 3 years old the following 3 features are delayed or not present:

(A) social interaction,
(B) language as used in social communication
(C) symbolic or imaginative play

The most advanced countries in the world studying these diseases are in the Scandinavian countries. Sweden has taken the lead in publishing a number of English studies that have helped understand this condition.  Dr, Eckstrom and others have done a fine job in the area of pulling more information out of surveys and studies to assist us with the understanding of this disease. This article is going to summarize the results of a study that was finished in 2008. There is a lot of information here so it will be a longer post:

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Juvenile and Childhood onset DM

JUVENILE DM

There is not much information on the juvenile form of CMD. There is a really good 30 minutes video about the Childhood forms (Red link at end of column). There is also a drug under development by Ionic Pharmaceuticals in Carlsbad, CA. 

BREAKING NEWS ON TREATMENTS: A recent study (Dec 2015) by Japanese and Polish researchers have found that Erythromycin an FDA approved drug might help with the treatment of Myotonic Dystrophy. This drug helped with the treatment of gastric symptoms in patients with myotonic dystrophy in a separate study in 2002. As the Juvenila and Childhood forms will be there for years your doctor may want to consider this treatment. Read more about this potential treatment here.

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General Information on DM1

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This is a diagram or the major effects of Myotonic Dystrophy on the Human. Click to enlarge

The Blog. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy  Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person  with myotonic dystrophy will most likely have  the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.

Four treatments that have potential have now surfaced about Myotonic Dystrophy. These are three approved Drugs by FDA and “off label use” may assist some people with DM1. (As always check with your Doctor) . The other is a drug that is not FDA approved in the USA for human use. Three off label uses have showed promise in mice studies but as yet there is no human data… In January of 2017 Ionis Pharmaceuticals stopped the trials of its DMPK-2.5Rx drug as it failed to show promise in the human trials.

====> Erythromycin study in cells and mice successfully pushes back disease in Mice
====> Actinomycin D study in cells and mice successfully pushes back disease in Mice
====> Phenylbutazone Ketoprofen  Study in cells and mice pushes back disease in mice. NSAID type drugs. Ketoprofen would be strongly preferred.

NOTE: These potential treatments are just that potential. NO studies in humans have been completed and reported. However, more and more information is available and hereat this si you will find all that is published. You and your doctor should discuss these if you feel it warranted.

Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. The incidence in Japan is approximately 1 in 20,000. In Africa and China the incidence is much lower.  The incidence of the congenital form of myotonic dystrophy  is much lower with an incidence of 1/100,000. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance.

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