Juvenile and Childhood onset 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.

Continue reading

Disability Benefits

Individuals with CMyD and MD may be eligible for disability payments (money) from the government.  There is a web site that gives more information and can help you apply. This information only pertains to US citizens.

It might be difficult to qualify for these benefits. The government is trying to cut back on the amount they pay for disability. The help of an expert might be required.


They have a book you can buy for $49.95 plus $7 shipping. The book is called “How to apply and win Social Security Administration Disability Benefits“. Also, if you wish they can assist in navigating the complex process of applying for benefits.

The General feeling is that a person in the US should apply for disability as soon as they are unable to work a standard 8 hour day for 5 days a week. It is important to apply as soon as possbile. With the complexity of a DM case you might want to consider a professional that would help you.

They don’t charge upfront but will take your case on a fee if they win basis.

Frederick Johnson 410/740-0454 for more info

During our visit to the Muscular Dystrophy conference in England we were able to talk with the social services people in England. For a disability the social security type system in England pays the individual more than what they were making when they were working. A nice system that perhaps the USA might adopt. There is additional information on social services at the 12th annual conference web site about this disease..


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”


How do I know if I have Myotonic dystrophy

How do I know if I or someone I know has Myotonic Dystrophy?

First you can scan the pages and see if your symptoms match those of people with Myotonic Dystrophy. Some of the symptoms are: A quick visual test is the grip test: Look at these pictures and then try to open and close your hand very rapidly. This are large visual files so may take a minute to open! Use your back button on the browser when done.

Polyhydraminos (Excess amniotic fluid during pregnancy)
Ulcerative Colitis (abdominal pains)
Muscle Pains
Hair Loss
Apathy/Lack of Motivation
Difficulty in swallowing and chewing
Abnormal ECG
Weakness in muscles, Hand, Ankle, Shoulder
Inability to rapidly open and close hand
Hypersomnia (Excessive sleeping)


Grip Test   
                 Characteristic Release

DNA Testing

If this still indicates that you may have myotonic Dystrophy you can visit your local Muscular Dystrophy Association if you live in the Untied States. They will arrange for a DNA blood test. The testing measures the number of CTG repeats on Chromosome 19 for DM1 and the number of Repeats on Chromosome 3 for DM2.  There is a foundation that may help with funding for testing. Contact us for more information.

There is also private companies that will do testing. You can send a blood sample to these testing labs and they will analyze the blood for you and send a report. Athena Diagnostics performs testing on both Type 1 and Type 2 Myotonic Dystrophy, DM1 and DM2. The fees for testing are between US$250 and US$350 per test.

Athena Diagnostics
Four Biotech Park
377 Plantation Street
Wochester, MA 01605
508/756-2886 Phone
508-753-5601 FAX

Baylor College of Medicine
Medical Genetics Laboratories
One Baylor Plaza
Houston, TX 77030

The normal number of repeats will be up to 5-38. Over this amount indicates that the disease may be present. The number of repeats can be in the thousands for the congenital form. You need to discuss this information with your doctor, the best would be with a neurologist at the Muscular dystrophy clinic in the USA or a Neurologist.

If the test show that an individuals has Dm then  make sure that all affected individuals carries an alert card. Emergency Medical personnel need to know if the person has DM. Click here to get an alert card. You can write our office for a plastic card to be carried in the wallet or purse.

What to bring to the Medical Office for 1st appointment

For your first appointment you might want to bring a medical history of any family members that might be affected. It will also help to print out the guidelines and Care recommendations from the Scottish Medical Society. Click here to access the Medical Guidelines and Care Recommendations.

Long Term Outlook Longevity


Myotonic Dystrophy is a slowly progressive neuromuscular Disease and the symptoms of the disease do gradually get worse over time. However, there are a number of ways to manage the symptoms of the disease and more and more management techniques are becoming available. In the very long-term outlook most people with DM will have shorter life expectancies, One study available at the end of this post gives an average of 59 years for females with DM1 and 60 Years for males

For children with the Congenital form once  beyond the early problems of respiratory distress the prognosis for life is relatively good. There will be improvement in early childhood and children will make steady progress in these early years. Motor function will improve, most children will walk and the marked hypotonia or floppiness will improve or disappear. For most children their performance will be limited by mental capacity and not by physical handicap.

Reardon reports on the outcomes of 115 patients with confirmed diagnosis’s of CMD.   The data suggests a 25% of death before 18 months of age and a 50% chance of survival into the mid-30’s. tables that follow are from Reardon. The Natural History of Congenital myotonic Dystrophy: Mortality and long term aspects. Archives of Disease in Childhood 1993; 68:177-181

               Long-term Survival Probability

Age X

Probability of Survival to Age X

Age X

Probability of Survival to Age X























234 .671



240 .657



249 .643



274 .625



304 .598



315 .564



388 .508



462 .339



474 .169



486 (40 yr.) 0







There was no instance of a congenitally affected patient having children. 48 patients reached the age of 20, 12 reached the age of 30. (of 115 patients). However, Reardon noted that “The degree of precision of estimated survival probabilities at the far end of the life table is recognized to be extremely poor” (or to put is more clearly he’s not sure how good the estimates are in the older years 30-40’s)During the study only 3 such individuals were studied and all died in this age band.

Details of Current Employment among the 48 patients reaching 20 years of Age

Employment No of Patients
Local Government Clerical Worker 1
Cinema Attendant 1
Garden Center Operative 1
Adult Training Workshop 5
Housewife 2
Unemployed 38

Most of the patients with CMD will be unemployed.

Chronic Medical Problems in surveying Patients n=71

Problem Number of Patients Percentage
Constipation/Diarrhea 24 34%
Recurrent Otitis 15 21%
Scoliosis 7 10%
Cardiac Rhythm Disturbance 3 4%
Vesicoureteric Reflux 1 1%

Causes of Death n=44

Cause No of Deaths
Constipation/Diarrhea 34%
Recurrent Otitis 21%
Scoliosis 10%
Cardiac Rhythm Disturbance 4%
Vesicoureteric Reflux 1%

However, during late childhood and early adolescence the “adult” features of myotonic dystrophy appear. Eye problems can be early on detected by the second decade and progressively muscles will be detected gradually weakening. No case of CMD has been found not to develop the adult version. O’Brien reports that of 46 patients with CMD 4 died outside the neonatal period at 4, 18, 19 and 22 years. Four more were considered seriously disabled with a poor prognosis. Problems seen in this group of 30 were gastrointestinal Problems in 8 (Constipation and abdominal pain) Talipes in 5. None in the group had any children and males showed marked testicular tubular failure indicating significant reproductive problems. Thus, long-term prognosis from a medical viewpoint is not bright.

Reardon noted that because of gastrointestinal problems children with CMD will show a positive anal dilation test. This test is sometimes used to diagnosis sexual abuse. Parents with CMD should be aware of this information. This test should not be used for any conclusive evidence of sexual abuse with children with CMD.

However, children with CMD are generally happy and cheerful individuals with a distinct personality and add a lot to family life as a whole. Medical outlook should be integrated with other family factors (see personal stories)

New Study May 1999:

A 10-year study of mortality in a cohort of patients with myotonic dystrophy.

Mathieu J; Allard P; Potvin L; Pr´evost C; B´egin P

Neuromuscular Clinic, Complexe Hospitalier de la Sagamie, Quebec University in Chicoutimi, Canada.

Neurology, 52(8):1658-62 1999 May 12


OBJECTIVE: To determine the age and causes of death as well as the predictors of survival in patients with myotonic dystrophy (DM). METHODS: In a longitudinal study, a cohort of 367 patients with definite DM was followed for 10 years. RESULTS: During the 10-year period, 75 of the 367 DM patients (20%) died. The mean age at death (53.2 years, range 24 to 81) was similar for men and women. Among these 75 patients, 32 (43%) died of a respiratory problem, 15 (20%) of cardiovascular disease, 8 (11%) of a neoplasia, and 8 (11%) died suddenly. The ratio of observed to expected deaths was significantly increased to 56.6 (95% confidence interval [CI] 38.7 to 78.0) for respiratory diseases, 4.9 (95% CI 2.7 to 7.7) for cardiovascular diseases, and 2.5 (95% CI 1.1 to 4.6) for neoplasms. The mean age at death was 44.7 years for the childhood phenotype of DM, 47.8 years for the early-adult, 55.4 years for the adult, and 63.5 years for the mild phenotype (F = 4.8, p = 0.005). The age-adjusted risk of dying was 3.9 (95% CI 1.3 to 11.0) times greater for a patient with a distal weakness and 5.6 (95% CI 2.2 to 14.4) times greater for a patient with proximal weakness as compared with a person without limb weakness. CONCLUSIONS: Life expectancy is greatly reduced in DM patients, particularly in those with early onset of the disease and proximal muscular involvement. The high mortality reflects an increase in death rates from respiratory diseases, cardiovascular diseases, neoplasms, and sudden deaths presumably from cardiac arrhythmias.

Full text of Article above

Here is another study abstract on Longevity:

Age and causes of death in adult-onset myotonic dystrophy.


de Die-Smulders CE; H¨oweler CJ; Thijs C; Mirandolle JF; Anten HB; Smeets HJ; Chandler KE; Geraedts JP


Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands. christine.dedie@gen.unimaas.nl


Brain, 121 ( Pt 8)():1557-63 1998 Aug


Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Southern Limburg (the Netherlands), using data longitudinally collected over a 47-year period (1950-97). Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population. The observed survival to the ages of 25, 45 and 65 years was 99%, 88% and 18% compared with an expected survival of 99%, 95% and 78%, respectively. Thus, survival to the age of 65 in patients with adult-onset myotonic dystrophy is markedly reduced. A weak positive correlation between the CTG repeat length and younger age at death was found in the 13 patients studied (r = 0.50, P = 0.08). The cause of death could be determined in 70 of the 83 deceased patients. Pneumonia and cardiac arrhythmias were the most frequent primary causes of death, each occurring in approximately 30%, which was far more than expected for the general Dutch population. In addition, we assessed mobility in the years before death in a subgroup of 18 patients, as a reflection of the long-term physical handicap in myotonic dystrophy patients. Half of the patients studied were either partially or totally wheelchair-bound shortly before their death.

More information is available on the lifespan on the congenital form of myotonic dystrophy from a study in 1993. Medical care has improved since then.

Chart for Life span Congential Myotonic dystrophy