You’ve reached my Blog. Somehow you have been touched by Myotonic Dystrophy. Maybe you are a new parent with a child with the disease. Maybe you’ve just been diagnosed. Maybe you are a medical professional with this disease.
This website started in 1996 as a flat page to summarize all the information on Myotonic Dystrophy. Its gone through a lot of iterations over the years. Here you can find information that is not readily available elsewhere. Basically, I try and post everything I can on the subject. Over the years web sites have come and gone so I try and capture as much as possible.
Like most sites, warning that you need to check with your doctor about the information on this site. For up to the date medical information check out the Myotonic Dystrophy Foundation site. They have the most recent and most accurate information. Its been vetted by their Medical Advisory Board. Also on this site is a Community where you can post and ask questions of others with the disease.
See below Chris and Myself at Disney-World in August of 2011. Chris loves Mickey Mouse and we live near Disneyland in Anaheim and also visit Disney-World a couple of times per year. Chris loves it. He walks but needs Wheelchair for all day activities at the Parks.
Chris is now 28 and has been hospitalized many times due to pneumonia and heart issues. Our last major hospitalization was for 4 months in 2018.
My son Christopher Weston has the congenital form of the disease. His Mom has the early adult onset form. She died in January of 2018 at age 59 of complications of the disease. It’s a beast of a disease affecting almost every organ and slowly gets worse over time once the adult symptoms start.
Check out the different categories and use the search function. You’ll find a lot of information that you need here.
I am a consulting paediatric ophthalmologist and strabismologist in Bangalore, India. I have a 4 year old patient with myotonic dystrophy with cataract posted for surgery shortly; kindly let me know how you people can make arrangements for collecting samples of the lens material, i use alcon infiniti system
kindly reply to my email as early as possible
My granddaughter just was diaigosed with myotonic dystrophy. She was 1month premature. They just placed a feeding tube in her stomach. Does she have a chance to live a full life? It is possible for her not to reach her first year of life. My son is such in a fog that he won’t read anything on this illness. She will be coming out of the hospital on Moday. Please give me some information on what signs we should look for. Thank you so much
hi, i came across your site as i am desperately researching information in regards to PGD/IVF due to my husband and 18 mth son having MD type 1. I was wondering if you had any recent updates in regards to PGD for MD type 1 that you could guide me to or provide specific websites for me to research in general. My husband is 40 with multiple symptoms, nothing severe at this point. He was not diagnosed until 27 and i want to make sure that i am well educated and aware of most recent data as i enter this life journey with my son. Any data, additional websites, info on PGD for MD (is there a facility that specializes PDG with MD? im just looking for as much info as possible. glad i came across your site, very informative! thank you!
You could have a read about my experiences on my blog. I have dm1 and did six cycles of IVF with PGD. I now have 2 healthy children. Shona. http://Www.apgdblog.blogspot.com
My mother passed away with this 1 year ago. It was very painfull watching her like that. I have four children and i would like to know where i can go to have me and my children tested for it.
My mother passed away as a result of this disease yesterday. She was first diagnosed in the 1970’s (She was in her late 20’s at the time). She was 64 when she passed away and lead a wonderful life. I would highly advise both the individual and family members learn at an early stage how to cope with and manage MD. I love you mom.
Based on what you have written it would seem that a DNA test to rule out myotonic dystropy would be in order. I not sure what tests they had in the past but modern DNA testing would rule in or out whether this exists. I would suspect that there may be myotonic dystrophy based on the symtoms that you state. If you go to the local MDA clinic in the USA they may be able to arrange for this testing for free. ThE MDF organization has a lot of information and I would encourage you to contact them as they can send you a welcome packet and further information http://www.myotonic.com
My new baby has congenital myotonic dystrophy and the doctors have said in her condition she will only get better. Does that make any sence,i have only readthat the type of md she has does not get better.Please help me understand this better. Thank you!!!
Typically kids with this disease get better in terms of muscle tone, respiration and cognitive function over time. They usually do better than what the doctors sometimes predict. However, later in life they will get the adult form of the disease that causes progressive deterioration. This does not occur until after puberty.
I got this off of a website that may help you understand the nature of your child’s condition. So I think what it means is that once the child with congenital Mytonic Dystrophy is passed a certain age-newborn to 6 months- they are out of the danger zone for serious complications. So after six months or so there will be improvements in the child’s functioning eventhough the condition is ultimately degenerative over time.
“Newborn:
Muscle function in patients with congenital DM1 follows a predictable pattern:
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Severe muscle weakness in newborns
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Substantial improvement in children who survive the first six months, often with delayed motor development in infancy and childhood.
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Development of symptoms that mimic adult onset DM1 in the later years.”
http://www.myotonic.org/
Babies with MMD1 slowly see improvement over time with walking and muscle tone. However, as they get older they then begin to decline again..I am not sure on the exact age, I think around teen years but could be wrong. Contact the myotonic dystrophy foundation..
my father has this disease and it has just set in
Sorry to hear this. He can get a welcome packet from the MDF at http://www.myotonic.com