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.

Pneumonia Lung Problems


Lung problems mostly occur during the advanced stage of the disease. Here too the weakness of the breathing muscles is not the main problem, because with MD in the worst case the breathing muscles are slightly affected. Chronic mechanical respiration, which is sometimes necessary with other muscular diseases, is seldom necessary with MD-patients.

The main problem with MD is the acute pneumonia. It is often caused by choking, though the patient is not always aware of it. Obviously he is choking on saliva when asleep, because swallowing is more difficult when lying down than being upright. Pneumonia mostly starts in the lower lobe of the lungs, but it can extend within a few days and become a serious and dangerous infection of a complete lung. This should be treated quickly with antibiotics and cough-medicine. Often admittance to hospital is necessary and sometimes patients require temporarily a mechanical ventilator at an Intensive Care. Sometimes the trachea must be sucked out with a bronchoscope, a flexible thin pipe, slid through the trachea by a lung-physician. Often this way of fighting pneumonia is successful. With some patients who frequently choke, within a few years several times pneumonia occurs. This can be prevented by sleeping at night in upright position, thus preventing choking.. In this case it is wise not to eat in the evening because from a filled stomach sometimes  food is belched up, which can reach the lungs

Management of Myotonic dystrophy

This information is from the 11th annual conference of the English Myotonic Dystrophy

“Myotonic Dystrophy Incurable but not Unmanageable”

The incidence of Myotonic Dystrophy is 1 in 8000. Most general practioners have about 2000 patients in their practice. So by simple mathematics only one in four general practioners will see a patient with DM. Most will not know much about it. So it is necessary to have specialized centers for treatment. (Webmaster note: By implication the congenital form is about 1 in 100,000 so that only 1 in 50 pediatricians will have a patient with CMyD in their practice)

Most other muscular dystrophies will only affect the muscles. DM is different in that other systems are affected as well. Another difference is that with most other genetic diseases you either have the gene and the disease or you don’t. DM is a variable genetic disease. It severity differs with the age of onset and the number of repeats. There is not a distinct expression of the disease based on an on or off view. Thus, many medical practioners will have a harder time understanding the disease. The other implication is that you can not generalize the condition of one patient with the disease to another, it is variable

Skeletal Muscle: The skeletal muscle is defined by Myotonia of muscular stiffness, in particular hand stiffness. Also certain other muscles are weak especially facial, scapula and humorous muscles are mostly affected. However, this stiffness is generally not he problems that patients report more, it is the weakness of the hand and other muscles that comes into play. This is more the day to day problems that weaker muscles may cause. Weakness of the grip seems to be the most problematic. A normal male should be able to squeeze about an equivalent of 50Kg. A patient with DM may only be able to squeeze the equivalent of 10-1Kg for example. Also weakness of the ankle muscles causes the characteristic gait of DM. Dr. Jones mentioned that a patient of his was unable to blow into a breathalyzer machine So Dr. Jones felt it was more the practical issues of weakness more than the myotonia that affect DM patients

Smooth Muscles: One of the primary effects of DM on smooth muscle is that swallowing and feeding are much more difficult. What is generally recommended is that food should be cut into small pieces and drink used to wash this down. Care must be taken to avoid aspiration pneumonia, that is food going down into the lungs and causing pneumonia. Dr, Jones mentioned a drug Cysotia?? (Margaret can we get clarification here) or surgery that might be needed to assist. Also a video Fluoroscopy will help diagnosis any feeding problems.

The smooth muscles also affects the bowel and notably irritable bowel syndrome is very common in patients with DM. This is failure of coordination of muscles. Constipation is also a complication because of muscle problems plus immobility of patients not moving. Surgery is not recommend and Dr. Jones has heard reports of patient deaths with surgery. The Uterus is also affected and problems in childbirth may result.

The heart is affected in other dystrophies but in DM it is not the heart muscle itself that is affected. Rather, it is problems with the electrical signals not working properly and the heart either working to fast or too slowly. Atrial fibrillation is when part of the heart is not working efficiently, pumping to fast and not coordinated) and this can cause dizzy spells and blackouts, can be treated. The heart can also pump too slow causing the same symptoms. Heart changes are slow to respond to changes in the body. Dr. Jones recommended an EKG every year to look for problems.

Eyes and Ears: Cataracts can be the first evidence of myotonic dystrophy disease. Generally, if cataracts are seen in patients under 50 DM should be considered. There is nothing special about the mature form of cataracts. However, in the early stages there is a characteristic pattern that can be seen that is unique to DM. A mild degree of deafness is due to DM but not serious.

Brain. On average IQ is a little lower. In the congenital form IQ is reduced and most children will have learning disabilities. The mental problems are pretty static with little change over time.

Excessive Daytime Sleeping: 75% of DM patients have excessive sleepiness. In a survey they conducted 120 responses were received and 40% of patients had a pathological sleeping problem. There is a new drug Modafinil (Brand name Provigil in USA) that might help. Make sure to take it in the morning!

Breathing: The lungs are affected as well as the heart. The anesthesiologist should be informed as well as the surgeon prior to any surgery. Certain precautions must be taken. DM suffers should wear a bracelet as well as cards in case of an accident. The group had a handout on anesthesia that was in some of there earlier newsletters.

Endocrine System: There is reduced fertility in patients with DM. There is also diabetes. Dr. Jones didn’t feel that DM diabetes falls into the classical sense of Diabetes. Feels that all patients with DM have problems with sugar levels. (My note: Might possibly have a different Mechanism of action?). Would be nice to get some more information on this.

Dr. Jones feels that the age of onset is a more potent predictor of outcome versus the number of repeats. There is the anticipation factor where in each generation the outcome becomes progressively worse.

Genetic counseling: Family needs to be screened especially women to prevent them from unknowingly having an infant with CMyD. When an individual is identified strong efforts should be considered to have other family members tested to avoid them having CMyD. For example Dr. Jones considered an example of a 28 year old male who was confirmed diagnosis with DM. He had 2 sisters one 25 and one 21. The 21 year old sister went on to have a child with CMyD because she was not informed or tested.

Link to Article by Dr. Carter on Management of Neuromuscular Diseases

Myotonic Dystrophy Booklet Vermont Genetics


MYOTONIC DYSTROPHY An informational booklet for individuals and families
Written by: Wendy C. McKinnon, M.S., Genetic Counselor Vermont Regional Genetics Center

This booklet is written for individuals and families with Myotonic Dystrophy, also known as Steinert’s disease or Dystrophia Myotonica (DM). The booklet describes what DOM is, how it is inherited, and recent discoveries about DM.

DM is an inherited disorder that affects about one in every 8000 people. In general, DM consists of muscle weakness and myotonia (inability of muscles to relax after use) which gets more severe over time. Specific problems in other systems of the body can also occur. Since DM can affect many tissues and organs it is called a “multisystem” disorder.

Myotonic Dystrophy is an extremely variable condition. It can vary in severity, the systems of the body it affects, and the age of onset, even in the same family. People with milder symptoms may never require special medical attention and thus never be diagnosed as having DM. On the other hand, newborn babies who are more severely affected may die during infancy without the diagnosis of DM ever having been made. If a newborn is diagnosed with DM, this may be the first time the family learns about the condition. Recent discovery of the gene alteration which causes DM helps explain this condition’s incredible variation.

What are the clinical features of Myotonic Dystrophy?

It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

Personal Stories ::: What are the clinical features of Myotonic Dystrophy?
It is important to realize that any one individual with DM is unlikely to have all of the features described here, but will probably have some of them and these may vary greatly from one individual to another.

DM primarily affects muscles and these will be described first. Myotonia refers to the slow relaxation of muscle following contraction, resulting in muscle stiffness. For example, following a forceful grip, the individual with DM may have delayed release of their grip. This may cause difficulty in releasing objects such as door handles, cups, tools, or bowling balls. Cold weather can make this worse. While myotonia is most obvious in the hands, it can affect other muscles as well. Some individuals with DM have little or no myotonia. Myotonia can be confirmed by an Electromyogram (EMG). An electromyogram involves insertion of a fine needle into the muscle and recording electrical activity, looking for evidence of myotonia.

Facial muscle weakness can be one of the earliest and most constant features of DM. There may be weakness and lack of movement of the facial muscles. Some individuals with DM are unable to whistle or retain air in their cheeks. Some people with DM describe difficulty drinking through a straw or blowing up a balloon, or getting food stuck in their cheeks. Facial muscle weakness may also make it difficult to smile.The muscles of the eyes can be weak, resulting in a “droopiness” of the eyelids which is called ptosis.Involvement of jaw muscles may give the face a hollow cheek appearance. More severe jaw muscle weakness may cause the jaw to hang open, dislocation of the jaw, locking of the jaw, difficulty in chewing, or “clicking” of the jaw.

The sternocleidomastoids are muscles in the neck and shoulder. Some people with DM have trouble lifting their head when they get out of bed due to weakness in these muscles. In addition, weakness of the shoulder muscles makes it difficult for some individuals with DM to lift their arms over their head for an extended period.DM commonly involves the distal (end) limb muscles. These include the forearm and hand muscles, as well as the muscles of the feet and ankles. Weakness of the hand and forearm can affect coordination and grip. Symptoms might include difficulty opening jars or holding small objects tightly. Weakness in the muscles of the feet and ankle may result in unsteady gait, tripping or stumbling.

What other muscles are affected in DM?

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

Speech requires the coordination of the muscles of the voice box (larynx), the throat , the tongue, the lips, and the roof of the mouth (palate). If any of these muscles are affected by DM, speech may sound slurred or indistinct. It is also common for individuals with DM to have somewhat “nasal” speech.

In the digestive tract, the muscles of the pharynx and the esophagus are primarily affected. The pharynx is the first passageway food moves through on its way from the mouth to the stomach, and the esophagus is the tube connecting the pharynx to the stomach.

Dysphagia is the term used to describe difficulty in swallowing which is common in DM. This is due to the muscles of the pharynx and esophagus having difficultly contracting and relaxing which creates difficulty swallowing and delays the entry of food into the stomach. Some individuals describe dysphagia as a sensation of “sticking” of food in the throat. Difficulty swallowing can sometimes be understood better with a barium swallow examination or esophageal pressure recordings. Eating and drinking small quantities slowly may help dysphagia.Individuals with DM may have an increased chance of gallstones.

The respiratory system includes the trachea, the lungs and the diaphragm. The trachea is the tube that carries the air we breathe from the mouth and nose to the lungs. The lungs transfer oxygen from the air we breathe to the blood. The diaphragm is the muscle just below the lungs which expands and contracts with each breath. There can be weakness of the respiratory muscles in DM. Also, as discussed earlier, weakness in the muscles of the pharynx and esophagus can cause delayed entry of food into the stomach. This delay, combined with weakness of the respiratory muscles, can result in entry (aspiration) of food into the lungs. This can lead to infections in the lungs, including pneumonia. Avoiding hurried meals or large meals at night and elevating the head during sleep may help prevent this problem.Hypoventilation refers to shallow breathing and is due to abnormalities in respiratory muscle function. Smoking worsens breathing difficulties.

How are the heart and blood vessels affected?

There is nothing unusual about the structure of the heart muscles in individuals with DM. However, there can be abnormalities in how the heart beats. An irregular beat is referred to as a cardiac arrhythmia. Some people have no symptoms as a result of a cardiac arrhythmia. Other people have palpitations (“fluttering”), chest pain or tightness.

What other systems are affected by DM?

Individuals with DM can have abnormalities of the endocrine system. The endocrine system consists of a number of glands that produce substances called hormones which are carried by the bloodstream to various parts of the body.

What is the age of onset of Myotonic Dystrophy?

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).

Symptoms of DM can first occur at various ages. In fact, there appear to be four stages of onset: congenital (at birth), juvenile (childhood), classic (20-40 years) and late (after 40 years of age).
Congenital DM refers to the presence of symptoms in the first month of life. The major features may include facial weakness, hypotonia (low muscle tone), respiratory problems, feeding difficulties, talipes (clubfoot). Delays in motor skills such as rolling over, crawling, and walking may also occur. Some degree of mental impairment will occur in individuals with congenital DM. For reasons not yet clearly understood, congenital DM almost never occurs unless the baby’s mother has DM herself – although she may have only a mild version of DM.

Occasionally, a woman with DM may notice decreased fetal movements during pregnancy because the fetal muscles may be affected. In addition, polyhydramnios (increased amounts of amniotic fluid surrounding the fetus) may occur. A fetus normally swallows and urinates amniotic fluid continually. In a fetus exhibiting symptoms of DM, there may be difficulty swallowing, allowing extra amniotic fluid to accumulate. Juvenile DM has its onset between the ages of 1 and 20 years, and classic DM has onset between 21 and 40 years of age. Symptoms in these often consist of muscle weakness, myotonia, and possible involvement of other organ systems. There may also be an increased chance of learning problems in school.

The mildest form of DM first occurs after the age of 40 years and is usually accompanied by cataracts. Some minor muscle problems such as jaw tightness or cramps in the hands may be present, or there may be no muscle problems at all.There is wide variability in the age of onset and the severity of the condition. Individuals who develop symptoms early in life will likely have a more severe form of DM; while those whose symptoms do not appear until later usually have a milder form.

The genetic nature of Myotonic Dystrophy

DM is caused by a genetic alteration in the myotonin protein kinase gene located on chromosome 19. Since our chromosomes come in pairs, we have two copies of the myotonin protein kinase gene. A person with DM has a genetic change or alteration in one of their two copies of this gene.

DM is an autosomal dominant condition – only one copy of the gene with the genetic alteration is necessary for DM to occur. DM affects both males and females equally; however, females with DM are much more likely to have a child with congenital DM than are males with DM.

The inheritance of DM follows an autosomal dominant inheritance pattern as illustrated. An individual with the genetic alteration found in DM has a 50% chance of passing on the genetically altered myotonin protein kinase gene to any child.

A child who has inherited the genetically altered myotonin protein kinase gene will develop some or many features of DM. Their age of onset may be the same or different from the parent’s.


What is the genetic alteration in the myotonin protein kinase gene?

The genetic alteration found in the myotonin protein kinase gene is a repeating sequence of three specific nucleotides (the building blocks which make up DNA, which in turn make up genes).

Can the clinical features vary from person to person in the same family?

Problems can range from very mild to very severe even within the same family, and it is not always obvious who in the family has the DM gene alteration.

What if a doctor suspects an individual has Myotonic Dystrophy

If a doctor suspects that an individual has DM because features of the condition are present, genetic testing may be performed to confirm the diagnosis. Genetic testing involves obtaining about two teaspoons of blood. DNA is isolated from blood cells and then the number of CTG repeats in the DM gene can be determined. Testing takes an average of 2-3 weeks. Its cost varies somewhat but in 1994 is approximately $300.00
What if an individual has no clinical features of DM but has a family history of DM?

If an individual diagnosed with DM is identified as having the CTG repeat expansion, a family member who has no features of the condition may also consider having genetic testing.

What about having children?

When one member of a couple has DM, there are a number of options available when thinking about having children.When one member of a couple has DM, there are a number of options available when thinking about having children.
A couple can choose to have children and not have prenatal testing. If a couple decides not to have prenatal testing, they should inform the obstetrician and pediatrician of the family history. If the fetus inherits the DM gene, there could be complications during the pregnancy and/or in the newborn period.

A couple can choose to have a pregnancy and have prenatal testing for DM by either amniocentesis or chorionic villus sampling to find out if the fetus has inherited the DM gene. Prenatal testing is described in the next section.

A couple can choose to adopt children because they want to significantly reduce the chance of having a child with DM.

A couple can choose to use sperm from an unaffected donor when a man has DM, or an egg from an unaffected donor when a woman has DM. This would significantly reduce the chance of having a child with DM.

Now available a couple can choose to have pre-implant diagnosis and then invitro fertilization. The egg is fertilized outside of the body, then tested to see if it has the myotonic dystrophy gene. Only healthy non Myotonic dystrophy embryos are then implanted into the women’s uterus for development.

It is important to remember that there is no right or wrong choice to make with regards to having children. Everybody has different experiences, thoughts, ideas, and opinions about the various options available.


Prenatal Diagnosis

Prenatal diagnosis is available to couples who would like to know during a pregnancy whether their fetus has inherited the DM gene from an affected parent. Prenatal diagnosis can be discussed with a genetic counselor. Pre-Implant Diagnosis is also available

Genetic Counseling

Genetic counseling is often useful for individuals and families with questions and concerns about specific genetic conditions


There are no specific treatments currently available for individuals with DM. It is hoped that with advances in research, a better understanding of the underlying cause of DM will lead to specific treatments for its symptoms. Medications are available that your doctor can prescribe to reduce myotonia, especially if it interferes with daily activities. Physical therapy and occupational therapy, as well as regular exercise may help minimize the progression of muscle weakness. Ankle and leg braces may help support these muscles.Drug Treatments are underdevelopment by Isis Pharmaceuticals and others. These treatments will not be commercially available until 2017 or 2018 at the earliest.
Additional Resources

Myotonic Dystrophy Foundation
Menlo Park, CA USA
Muscular Dystrophy Association (MDA)
National Headquarters
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Telephone (602) 529-2000 / Fax (602) 529-5300 The National Society of Genetic Counselors (NSGC)
Executive Office
233 Canterbury Drive
Wallingford, PA 19086
Telephone (610) 872-7608

Sleeping problems and energy myotonic dystrophy

Many individuals with myotonic dystrophy run into problems with excessive sleeping (hypersomnia) or problems with energy levels as the disease causes individuals to lose focus and direction. At the 11th annual conference in Liverpool England they said that a new drug had helped some individuals. This drug is known as Modafinil or in the USA under the trade name Provigil.

The doctors at the conference stated that the drug had worked remarkable well for some patients and that it had let them lead a more normal life. Dr. Miller at the MD clinic in San Francisco had some familiarity with the drug and suggested a trial.

My wife has taken the drug only a few times in the last few weeks but it has made a world of difference. Her energy level has picked up. She previously was unable to do many tasks as she was tired. Now she can do many more tasks. She used to sleep 14-18 hours a day. Now she can function at more normal levels.

Another individual took the drug and it worked for a week but then the effects seemed to wear off and she slept as much as she did before.

Information from the Quest Magazine Vol 7 #5 (October 2000)

In Myotonic Dystrophy the part of the brain that  controls the level of arousal and alertness is often involved. People with myotonic dystrophy even after their respiratory problems have been brought under control with assisted ventilation may need additional help in the form of a stimulation medication.

David Rye a neurologist and sleep specialist at Emory university has used pemoline (Cylert) methylphenidate (Ritalin), and modafinil (Provigil) for this purpose when patients with myotonic dystrophy and daytime sleepiness come to him from the MDA clinic. He says that recent breakthroughs concerning proteins in narcolepsy (a brain disorder that causes people to fall asleep frequently during the day) may have application to the daytime sleepiness of myotonic dystrophy.

Rye uses a multiple sleep latency test in which the subject is asked to take 4-5 naps at two hour intervals as a “way of putting a number” on daytime somnolence. The test measures the kind of daytime sleep experienced (REM sleep is unusual in the normal napper) and the time it takes to fall asleep during the day.

From the same article in Quest

Myotonic dystrophy affects not only the muscles in breathing but also the cells in the brain that control how we breathe. During sleep many people with this disorder can fail to breathe normally because of this brain factor a condition that is known as central sleep apnea (because of the involvement of the central nervous system)

The usual treatment for sleep apnea whether its obstructive or central and for ineffective nighttime ventilation  is noninvasive positive pressure ventilation (NIPPV). This means using a small ventilator that pumps air into the lungs via a mask that fits over the nose or nose and mouth to assist in breathing

The type of NIPPV that is usual used in neuromuscular disease is bilevel positive airway pressure or BiPAP. Bilevel pressure as contrasted to continuous pressure (CPAP) allows lower pressure to exhale against and delivers a higher pressure on inhalation.

FROM MDA Site ask the experts: REPLY from MDA: David Rye, M.D., Ph.D., Emory  University  School of Medicine,Atlanta, GA 30322

Excessive daytime sleepiness is exceedingly common  in myotonic dystrophy (about 85 percent). Unfortunately, it has not been systematically studied and there is a lack of objective data on its prevalence, cause and treatment. Many patients with muscular dystrophies exhibit sleep apnea, which can fragment sleep, resulting in  numerous arousals and unrefreshing sleep with daytime sleepiness. It has been estimated that nearly 50 percent of patients with “neuromuscular” diseases have clinically significant sleep apnea. Therefore, it is wise to have a sleep study performed to rule out the presence of sleep apnea. This can even be a portable study at home for convenience. If sleepiness exists in the absence of sleep apnea or with treated sleep apnea, treatment with wake-promoting drugs like Provigil is certainly warranted. We have observed many favorable responses with Provigil in patients with  myotonic dystrophy and are advocates of its use.  Side effects are minimal compared to other classic psychostimulants such as methylphenidate (Ritalin)and dexamphetamine (dexedrine).

Articles to Review

Provigil Reduces Fatigue in MS patients
Provigil approved for Narcolepsy
Provigil and Sleep Forum


Provigil and narcolepsy
Provigil and Multiple sclerosi