General Information on DM1


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.

Five  new treatment 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) One is a study of a new drug. The other is a drug that is not FDA approved in the USA for human use.
====>Ionis Pharmaceuticals Study looking for participants (800) 679-4747 (CALL THEM!)
====> 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

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.

Continue reading

Print Friendly

Common Antibiotic Might Help Treat Myotonic Dystrophy Type 1 – Promising Therapy


In a study published in December 2015 in a peer review journal researchers from Japan and Poland found that a commonly used antibiotic might assist in the treatment of Myotonic Dystrophy. This is a sort of stunning discovery as there is no treatment identified to treat the disease. Treatment now consists of reducing symptoms.

The researchers first began by screening antibiotics. In a screen of 20 antibiotics 2-3 were found to have some potential with the disease.When screening the drugs they first used mice cells and lab equipment to find the most promising compounds (drugs). . Erythromyicin was found to have the highest attraction to the RNA CUG expansion (The opposite of CTG repeats in the DNA) Erythromycin was the drug that the researchers chose to study. Click here for the screening graph Muscleblind and Various antibiotics and compounds

Continue reading

Print Friendly

Study of Childhood and Congenital Myotonic Dystrophy

Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.

“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”

BELOW click on hyperlink for full study in PDF form.

Childhood Myotonic dystrophy 2015

Print Friendly

Phenylbutazone & NSAIDS – Another potential treatment(s) for Myotonic Dystrophy

Orudis KT

Another paper has been published and revealed another potential treatment for myotonic dystrophy, Phenylbutazone PBZ.. Interestingly this study was also done in Japan………… now a hotbed of repositioning drugs for treatment of myotonic dystrophy.   some info from the study

“Using the drug repositioning strategy, we found that PBZ markedly elevated MBNL1 expression in myogenic cells(Fig. 1 and Supplementary Fig. S1) as well as in skeletal muscles in HSALR mice model (Fig. 2 and Supplementary Fig. S2). PBZ mitigated muscle pathology (Fig. 2d,e) and improved the running wheel activity and grip strength
in HSALR mice (Fig. 2c and Supplementary Fig. S2d).”

This summary above  showed that in mice this drug helped mice with myotonic dystrophy run on the wheel better and had better grip strength. More info below

PBZ is an NSAID with anti-inflammatory, antipyretic, and analgesic activities. PBZ was approved in humans for rheumatoid arthritis and gout in 1949. Although incidental adverse effects of fatal liver disease and aplastic anemia markedly lowered the use of PBZ, PBZ is still used as an alternative drug for ankylosing spondylitis32,33.
Interestingly, another NSAID, ketoprofen has been reported to suppress CUG-induced lethality in Drosophila34, and we also found that 50 μ M ketoprofen upregulated the expression of Mbnl1 mRNA 1.2-fold in C2C12 cells, which was lower than the 1.3-fold increase of Mbnl1 mRNA by 50 μ M PBZ (Supplementary Fig. S6). Ketoprofen
and some other NSAIDs may have beneficial effects on a mouse model of DM1, as well as on DM1 patients.

Editors Note: This drug (PBZ) approval was removed for humans in 2003 in the USA and Canada. It is available for use in animals only. The drug Ketoprofen was not studied in depth but is an approved NSAZID drug in the USA. We have choosen the image of Ketoprofen as this is an approved drug in the USA.

Full study is Here.. Phenylbutazone Treatment DM1 mice

Print Friendly

Erythromycin Use in Myotonic Dystrophy Patients – Reduces diarrhea and more

In 2002 a study in Sweden was conducted to see if a drug, Erythromycin would help improve the stomach emptying rate in patients with Myotonic Dystrophy. This study looked at 10 patients… here are a few key details:

“Gastrointestinal symptoms are
common among affected individuals and they may be of
considerable clinical relevance, e.g. abdominal pain, diarrhoea,
or anal incontinence. In a recent study we have found
that one-quarter of the patients considered their gastrointestinal
symptoms to be the most troublesome consequence
of the disease [3].”

The study showed that the drug erythromycin did not improve stomach emptying time but did help the majority of patients with diarrhea. In general the patients thought this drug improved their condition.

“Nevertheless, in general the patients
considered the treatment effective. This could be explained
by possible effects of the drugs on parts of the gastrointestinal
tract other than the stomach [15,16] due to the widespread
involvement of the gastrointestinal tract in MD
[9,17]. This assumption gains support in our study from the
fact that six out of 10 patients experienced reduced
symptoms of diarrhoea.”

Continue reading

Print Friendly

Watch your Weight!!! – It may affect your breathing!


A recently published article has great information about weight and breathing. Simple conclusion: is that being overweight with Myotonic Dystrophy can affect your breathing and respiratory function. Since respiratory failure and pneumonia are big issue with Myotonic Dystrophy pay special attention to your weight!!! It also showed that a great majority of people with DM have an abnormal body composition. ITs important to keep the weight off but you also must see a nutritionist to insure that you are getting proper nutrition and to look at your body weight/mass/BMI. Here is the summary

InDM1 patients, overweight is an independent factor for predicting TLC, and contributes independently of FIV1. Because overweight isr elated to increased work of breathing and inspiratory muscle strength is reduced inDM1, the fatigue threshold will be reached sooner. Therefore, muscle fatigue and the onset of respiratory failure will develop at an earlier stage in overweight patients, especially during increased ventilator demand. Moreover, over half of DM1patients are overweight, and nearly all patients have an abnormal body composition. To develop interventional strategies for weight loss, it will be important to categorize the individual type of body composition. Hence, preventing the development of overweight inDM1 patients may result in delaying respiratory failure and mortality in DM1.

Click below on the link for the full study

Overweight Myotonic Dystrophy

Print Friendly

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.

Continue reading

Print Friendly