Feb 192013

My wife had myotonic dystrophy. It was the underlying cause of her early death. Although we knew of her condition for the past 7 years, we were unaware just how life-threatening it could be. Unfortunately, her doctors were also ill informed since myotonic dystrophy is not a common illness. I am presenting some information here in the hopes that it could be useful, and even life extending, for others who may have myotonic dystrophy.

Myotonic dystrophy is caused by a defect in a specific area of chromosome 19 called DMPK (dystrophia myotonica-protein kinase).  It is normal for protein sequences to repeat a few times, however when a particular sequence in this region repeats more than 35 times, a person is said to be affected by myotonic dystrophy. This was discovered in the early 1990s and since then, suspected cases can be confirmed by a genetic test. Myotonic dystrophy is an inherited disease. It is passed from parent to child in an autosomal dominant fashion. This means that if one parent has the disease, their offspring each have a 50% chance of also being affected. Moreover, the disease tends to become worse with each successive generation. Thus, if a parent had a mild form of the disease, their child could have a classic or even a congenital form.

Myotonic dystrophy is classified based on the number of times the protein sequence is repeated. Fewer than 35 repeats–normal, no disease indicated. 35 -100 repeats–mildly affected by myotonic dystrophy. (However, their offspring have a 50% chance of developing the illness, possibly in a stronger form.) 100 – 1000 repeats–the person has the classic form of myotonic dystrophy. Beth had 212 repeats and was seriously affected..

Until 1992, myotonic dystrophy was one of many neuromuscular diseases that was difficult to diagnose with certainty. Since that time, the availability of genetic testing means that a person can be determined to either have the disease or not. Unfortunately, having this diagnostic capability for such a short time means that there have been many undiagnosed cases and therefore there are large numbers of people today who may be at risk for the illness and not know it. In my wife’s case, we will never know for certain which of her parents had the disease, although we are fairly certain it must have been her mother. For those with the mild form, they may have a normal life span with little physical symptoms. The most typical symptom would be early-onset cataracts, the possibility of diabetes, and the typical myotonia (the inability to relax one’s grip easily).

Beth wobbling along at the edge of the Grand Canyon in 2004. A year later she would be diagnosed with myotonic dystrophy.

For those with the classic form, there are many symptoms affecting various muscles and organs. These include weakening of muscles in the forearms and hands, calves and feet, shoulders back and face, and diaphragm. Those weaknesses can affect a person’s ability to walk, keep their balance, perform fine motor skills with their hands, and breathe. Men may experience infertility. Women with this form of myotonic dystrophy frequently have difficulty with childbirth. (My wife suffered through many hours of unproductive labor before eventually giving birth via cesarean section to our first child.)

Weakness in the facial muscles can cause a person’s appearance to change rapidly. There can be loss of hair on the front of the scalp, drooping eyelids and an open mouth. These weaknesses can also cause frequent jaw dislocation, and difficulty swallowing.

Cataracts are very common, and an alert ophthalmologist can be the first to raise the possibility of myotonic dystrophy with the patient because the types of cataracts have a distinctive appearance when they are caused by myotonic dystrophy.

There is an increased likelihood of diabetes and cancer among those who have the classic form of myotonic dystrophy. They will also be more likely to have digestive and intestinal issues.

There are numerous hormonal consequences, including reduced sex drive, early infertility, insulin resistance, and thyroid problems. There can be increased chance of gallbladder inflammation, problems with the pancreas, and chronic constipation.

The most common causes of death for those with myotonic dystrophy are respiratory failure and cardiac arrest.  Most articles you will read about myotonic dystrophy recommend yearly EKGs because there is the likelihood that cardiac arrhythmia may develop. What they don’t say, is that there should also be a 24 hour Holter study done from time to time, as this is more likely to catch an arrhythmia that comes and goes. Thanks to having an autopsy performed following my wife’s death, we now know that she had been having episodes of insufficient blood flow to her brain for some time that had not been detected by either the annual EKG or MRIs. The MRIs would have shown more if we could have used contrast medium with her but unfortunately her kidneys had been damaged to the point where contrast medium was not possible. She died when a combination of factors overwhelmed her.

It is especially important that an anesthesiologist know about a patient’s status with myotonic dystrophy as the patient will be at much higher risk of respiratory issues.

Here are some things to look for:

An unusual walking gait where the foot seems to slap down on the ground, preventing the normal flowing motion of a healthy walking motion.  There may also be an increased likelihood of falling.

Early-onset cataracts, especially “Christmas Tree” cataracts on the back of the lens.

Difficulty relaxing ones grasp on an object.

Excessive sleepiness.

Download large format poster.

Important disclaimer: I am not a medical professional and what is on this page should not be considered medical advice. I have read a great deal about my wife’s illness and have attempted to present the information in a more readable fashion here. I am providing you with the links to my sources. You should also know that I’m only covering the mild and classic forms of type I myotonic dystrophy. There is also the congenital form which can affect infants at birth and type II myotonic dystrophy where a different gene is affected and the disease is generally not as severe.


  15 Responses to “Myotonic Dystrophy”

  1. Hi Mike,

    First neuro I saw was sure I had Myotonic Dystrophy and many of my symptoms did fit. I was fortunate that within a few months, in 2002, a DNA test became available through Athena Diagnostics that proved that I absolutely don’t have any of the several variations of this condition. At the time it cost about $750 and was not covered by my health insurance. Still, the knowledge was worth it that my kids weren’t in line for this condition, which can be worse in each generation.

    Thank you for a good description of this condition. In 2002 I found a wonderful forum to discuss the disease with others who were living with it. I don’t know if it still exists but I so hope the members are doing well.

  2. Hi.

    I was around 40 when I was diagnosed with type 1 myotonic dystrophy. Actually, this disease is not rare; it is the most common form of musculal dystrohy for young adults. Unfortunately, I had both of my children in my late 20’s. After family testing, it turned out that all three of my siblings were afflicd and both of my children have this. I’m beginning to think that both my parents had this disease.
    I have the woblby walk, am getting catarac surgry next month. I am often sleepy and have oral managed diabetes. I fall often and my sense of balance is shot. However, I remain active, go to the gym and for park walks. I’m currently hampered by a broken ankle I got from a car accident.

    • Hello Gail, you are correct that myotonic dystrophy is the most common form of adult onset muscular dystrophy. Even so, only one in 8000 is affected by it. (My own disease is the most common form of myopathy affecting mature adults, but it’s incidence is about one in 100,000.) I am very sorry that myotonic dystrophy has affected your family to such an extent. From a statistical perspective, it is unlikely that both your parents were afflicted since the odds against that would be approximately 64,000,000 to 1. On the other hand, the odds of having all 4 siblings in a family afflicted (where one parent has the disease) is one in 16. It is great that you are remaining active. If you haven’t already, it would be a good idea to have a 24 hour Holter study done to be sure you are not developing a cardiac arrhythmia. Regular electrocardiograms did not reveal my wife’s cardiac problems and we only learned of them afterward.

  3. Great article. My husband has Myotonic Dystrophy and I am always lookign on the internet for new things to try and help him. I came across your article by chance and think your poster explains a lot in an easy to read form. I didn’t know about the cysts and the likelihood of cancer so I am always learning.

  4. Hi Mike,

    I work for the Myotonic Dystrophy Foundation, and I came across your blog while looking for DM resources for our community. First off, I am so very sorry for your loss. Thank you for channeling your grief into something that can be useful to the greater DM community. This chart that you have provided is an incredibly helpful tool for educating doctors across the board! Would you mind if I modified it a bit and used it?

    Thank you so much!
    Aly Galloway, MDF Community Engagement Manager

    • Aly,

      I would be very pleased if you found a way to make use of the chart. Of course you may modify it to suit your needs. I would be interested to see the finished product when you are done – just out of curiosity, not with the intent of “approval.”


  5. Thanks for the share! My dad developed this disorder in his 70 and he was taken to a senior assisted living for further care and nursing. We were really confused since the doctor advised taking him to nursing home. But we wanted him to be happy in his elderly years and we found Prestige Care Senior living community! We were very impressed with the inspections and medical care given to him and the caregivers there are very kind and concerned. We really miss him!

  6. Can anyone help us? My husband, Gordon has Myotonic Dystrophy & we are moving to Spain to live. Gordon wants to “give it a go”, but we cannot find anyone for Medical Insurance. Does anyone know of a company that can help us? Fingers crossed, thanks Gail.

  7. Thanks for the information. My boyfriend has T1 MMD and he has known about it for 10 years now. His father was the carrier although the dad has not been diagnosed. I came across your website as I was looking into the effects of the disease lowering his sex-drive. He has all the classic symptoms that you mentioned above and although his career is not physical, he sleeps a great deal. We are engaged and he is in his mid forties. He has informed me that his life expectancy is only about 20 more years. I really just wanted to say Thank You for providing this accurate information and also Thank You for being a wonderful husband to your Beth.

    • I have type 1 myotonic dystrophy I found I was tired a lot and my neurologist had my tested for sleep apnea which can apparently be common because of weakness in neck muscles it turned out I did have sleep apnea so I now sleep with a cpap machine and wear a mask and the difference is massive I’m more alert all day now maybe get your bf tested to see if it’s the same problem

  8. Hello thank you for writing this. We found out a couple of years ago that myself and my younger brother have type 1 myotonic dystrophy from my fathers side. The lucky thing about getting it from your father is it’s apparently a lot less severe than if you get it from your mothers side. My brother and I don’t have a lot of symptoms and our symptoms are very different. I have muscle weakness in my hands with a week grip and when grabbing something not being able to release my grip striaight away. My brothers hands are fine but he has problems with his shoulders where he cannot put his arms above his head however my shoulders are fine. We both starting losing our hair young. Mine started going at the age of 24 and I was totally bald by 29 I am now 31. My brother is 27 and his hair is thinning rapidly. Apart from this we have no problems we have both had EKG and Holter monitors with no problems detected. We both live an active lifestyle we both play Tennis 3 times a week at our local tennis club. I am also a keen swimmer and do body combat. I have recently been given some pills to help with the myotonia though so far I haven’t noticed a difference. I think I am lucky as my symptoms seem to be very mild compared to others the main reason I am posting this is not because I am looking for help but to tell others if they have got myotonic dystrophy it might not impact on your life very much at all. When I was diagnosed it didn’t change anything for me because my hands had always been weak and I had just found my own way of doing certain things. Anyway I hope for anyone worried this article helps and if you are worried and would like to contact me to talk about it in person thats fine too. Thankyou for reading

    • My son was diagnosed at age 31 a few months ago. As his Mom I have feared something terribly wrong for several years. He is in the Military, was ready to start a family after being deployed last year. Life has changed and I am searching for any information available. As a mother you would take any pain from your child, I am now adjusting to the fact he inherited this disease from his father. We are awaiting my daughters genetic testing, she has 3 children. Like so many I had never heard of MMD and how it attacks so many organs and of course muscles. There is so much depressing and upsetting about it, I am looking for the strength to help him from a distance.

  9. My father passed away July 14, 2014. He had Myotonic Dystrophy. He was a very healthy and athletic man all of his life. He had a love for life and a love for his family! And he also loved to canoe, any river any where. He raced when I was young, all over Michigan. My dad was a person who would do anything for anyone, when we found out about the Myotonic Dystrophy it was so crazy. My mom and dad had 7 children. We were in shock, and disbelife .No One wanted to help my dad. They all said he was dying and I should accept it. Well my dad and I did not accept it we went all over Mi. looking for help, no one could help! Dad had a feeding tube for the last 2yrs. of his life. He fought every day to stay alive! He died of starvation, with all of his family beside him! WE NEED TO FIND A CURE!!!!!! My dad was 74yrs, young!

  10. My son was diagnosed at age 43. Only did he tell us two years ago. I knew their was something terribly wrong,but did not no what.
    I feel he is becoming weaker although he still maintains a full time job, travels and enjoys life.
    I’m asking how long till med trials will be over and something available ?????

  11. There will not be a cure. I will die of this disease. There are no treatments that will help a disease destined for you by your DNA.

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