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


Your Child and Encopresis
Susan Poulton, RNC, ARNP, CNS II and Jeanne Torrens, RN, MSN, CNS II
Updated Spring 2001 by Joni Bosch, PNP

What is encopresis?

When a child who is older than four regularly has stool or bowel movement accidents, the condition is called encopresis. Chronic constipation often leads to encopresis. The stools may be firm, soft, or liquid. We don’t always know why an individual begins to have encopresis.

What causes encopresis?

During toilet training, a child learns how to control bowel movements. During this process, the child is taught to recognize signals from the muscles and nerves that warn it is time for a bowel movement. If something interferes with these signals, then stool accidents will eventually happen.

Encopresis occurs when feces, or stools, are allowed to build up in the colon (or large intestine) over a period of time. This may happen because a child does not have regular bowel movements, or because the bowel doesn’t empty completely on a regular basis. Over time, the feces that stay in the bowel become large, hard, and dry. At this point, having a bowel movement may be painful. Liquid feces often leak out around the hard, dry stool. The colon and rectum stretch. The stretched muscles and nerves give fewer and fewer signals to the child’s brain about the need to have a bowel movement. This decrease in signals results in stool accidents, and the colon and rectum often don’t empty as they should (see Figure 1).

1. Feces or bowel movements move through the colon on their way to the rectum.

2. If these feces aren’t passed…

3. … they will collect into a large mass in the rectum. This can cause a condition known as megacolon. More liquid fecal matter will sometimes run down around the more solid feces.

4. If the child’s sphincter relaxes, liquid waste may leak enough to soil a child’s clothing.

How can I tell if my child has encopresis?

You should be concerned about the possible development of encopresis if you find the following:

Your child has stool accidents or liquid stools at times other than during an illness.

Your child complains about clothing that is too tight around the waist. If you press gently around the edges of your child’s stomach or abdomen, you may find a mass that feels almost like the links of a sausage. The mass might be on one side, or might have the shape of a large, upside down U that runs up one side of the abdomen, across the top and down the other side.

Your child complains of pain related to having a bowel movement. Sometimes a child will tell you that he or she can’t go to the bathroom because it hurts too much.

Your child has a poor appetite. A child with encopresis may complain of a stomach ache, heartburn, or cramps; may feel too full to eat; or may vomit.
Why is encopresis a concern?

Untreated encopresis can lead to several conditions that threaten the health of your child. These conditions include:

Megacolon, a disorder in which the colon gets bigger because of the large amount of feces that stay in the bowel. As the colon gets bigger, its muscles and nerves lose the ability to signal the need for a bowel movement.

Bleeding and cracking of the skin, called fissures, may occur around the rectum as the result of passing large, hard, dry stools. This can be very painful.

Blood may appear in the stool, due to the irritation of the colon lining caused by hard, dry, compacted feces.

Children may develop urinary tract infections and wetting accidents when the overloaded colon presses on the bladder, or prevents the bladder from emptying completely.
How is encopresis treated?

The success of any treatment for encopresis will depend on the two factors:

The child’s ability to carry out the treatment plan.
The family’s support of the child.

Encopresis cannot be cured overnight.
It is important to understand what encopresis really is. The problem is not “in the child’s mind.” It is not a “behavior problem.” Encopresis happens because a child’s colon doesn’t work as it should.

The child and the family will need to be patient. It is important that the child isn’t blamed or teased about this condition. Instead, the child should be praised as each step of the treatment is successfully carried out.

The treatment of encopresis begins with the use of enemas to clean out the colon and rectum. When this has been done, the child will need to regularly take laxatives to soften stools and promote bowel movements. The child won’t become addicted to the laxative, or dependent on its use. Laxatives are needed to help clear out the feces. Then the laxative helps the colon begin to work correctly.

In addition, the child will need to use a regular toileting schedule. After each meal and at bedtime, the child must sit on the toilet and try to have a bowel movement. This goal is to establish a pattern of regular bowel movements. It is easier to have a bowel movement after meals because of the gastrocolic reflex that occurs when we eat. As food goes to the stomach to begin to be digested, this reflex makes the intestines contract to move the stool along so that there will be room for more digested food.

As part of toileting, a child will need to practice the Valsalva maneuver. This is the technique of holding your breath while tightening your abdominal muscles and bearing down to have a bowel movement.



Diet and exercise are important.

A child should eat foods that are high in fiber, like fresh vegetables and fruits.
They should drink plenty of fluids throughout the day.
Exercise is also important in starting and maintaining healthy bowel habits.
These three factors — fiber, fluids, and exercise — help keep stools soft and bowel movements regular.

The successful treatment of encopresis typically takes from six to twelve months. It is important to continue both the bathroom schedule and the use of laxatives. This should be done for at least 6 months, while the colon heals.

Remember that even after treatment ends, a child must maintain good eating, exercise, and toileting habits. When this is done, encopresis usually will not recur.

Please note — Before using this information, please discuss it with your family health care provider.

Find more information about this subject in the online catalog of our Disability Resource Library.

“Your Child and Encopresis: Easy Reading Flier”


Toliet Training for kids and adults

Almost all children with CMD will have delayed toilet training. Delays to years 8-15+ have been known. There can be involvement and weakness with the anal sphincter muscle which will cause involuntary problems with toilet training. I am still gathering information on this section……

Some information from MDA USA: (Dr. Ed Goldstein MDA Clinic Director Atlanta)

Q:Any suggestions with Toilet Training 6 1/2 year old. We have work on this with no success
A: As per your difficulty with Toilet training, this may result from any of the above noted factors (Learning disabilities, Attention Deficit Hyperactivity Disorder (ADHD), Learning Disabilities LD)in additional to intrinsic abnormalities of bowel/bladder function secondary to myotonic muscular dystrophy. You may want to explore possible medical aspects of this problem with your physician. If they don’t feel that there is an underlying health problem producing your son’s accidents consider further behavioral interventions. Only attempt to correct one or two behaviors at a time. Consider using time cycling in which the patient is placed on the toilet on a strictly enforced schedule and strong positive reinforcements for successful performance. This may consists of treats, a star chart, reading or video period in the bathroom. Frequently parents are best able to judge those rewards which are most likely to produce the desired behavior in their children.

Basically, your on your own on toilet training the local doctor will refer you to the clinic which probably will not be able to help you. Its really up to the parents to execute toilet training which will require dedication. A good book on this is “Steps to Independence By Bruce L. Baker. It is available from: Paul H. Brookes Publishing Company PO Box 10624 Baltimore, MD 21285 United States of America (Also Offices in Sydney and London) Last Resort……….=====>Toilet Training Web Site

There may be involvement of the Colon with CMD. Harper reports that recurrent diarrhea as well as abdominal distention, colonic dilation and abnormal colonic peristalsis were reported in one 8 year apparently unaffected but then myotonic potentials were seen. Thus smooth muscle problems of the colon may be the first and only initial features of (Standard) Myotonic Dystrophy.

More information from a medical study

In the USA the Kimberly Clark corporation make a product called Good-Nites which is a diaper/Nappy that resembles regular underwear. They have a website. . They come in sizes up to X-Large 85 pounds plus. These might be helpful in managing incontinence. 

This condition is also know as Encopresis. Here is a web page devoted to that subject Link to Encopresis page. This is a very comprehensive page that may assist you through this problem.

Here is a useful article on Encopresis from the American family Physician