Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPrognosisCoping
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
Myotonic muscular dystrophy, which is sometimes called myotonic dystrophy, is a type ofmuscular dystrophy. There are two types of myotonic muscular dystrophy, described as type 1 (DM 1) and type 2 (DM 2). DM 1 is also called Steinert’s disease.
This article discusses myotonic muscular dystrophy and its causes, symptoms, and prognosis. It also goes over the diagnosis and treatment of this condition.
Verywell / Emily Roberts
What Are the Symptoms of Myotonic Muscular Dystrophy?
The symptoms of myotonic muscular dystrophy can begin at any age between infancy and the age of 40. If you or your child has DM 1 or DM 2, you may experience some of the following.
Skeletal Muscle Weakness
Skeletal muscles are the voluntary muscles attached to your bones. They move your arms, legs, head, neck, and torso. They can be mild to moderately weak with DM 1 or DM 2, but these muscles do not become completely paralyzed.
An example of this would be if you tried to squeeze your hand shut, but the action takes longer than you want it to.
Muscle Atrophy
Atrophyis the loss of muscle. It causes further weakness and produces an appearance of thinning muscles.
Myotonia
The increased muscle tone of myotonic muscular dystrophy is described as myotonia, and it manifests as a prolonged contraction and slowed relaxation of the muscles. This means that once a muscle moves, it takes a few seconds longer than usual to return to its relaxed state.
Myotonia can affect skeletal muscles as well as the muscles of the internal organs. This can be a very subtle symptom when it affects the skeletal muscles, but it can cause significant symptoms in the body’s internal organs. For instance, it can cause the heart to beat slowly or slow digestive function.
Digestive Problems
Weak gastrointestinal muscles and prolonged contraction can cause stomach pain, constipation, and gallbladder problems.
Heart Problems
The heart muscle weakness of this condition can cause decreased power of each heart contraction, which may manifest as fatigue. Myotonic dystrophy can also impact the heart’s electrical system, potentially producingbradycardia(slow heart rate which can cause weakness, fatigue, lightheadedness or syncope), orventricular tachycardia, which can cause sudden death. Heart problems are more common with DM 1 than with DM 2.
Cataracts
Insulin Resistance
Early Male Pattern Baldness
Men are more likely than women to experience early baldness, but women who have DM 1 or DM 2 can have hair loss as well.
Characteristic Facial Appearance
DM 1
DM 1 usually begins during infancy, but may begin at any time during a person’s life. It has been described as congenital onset, juvenile onset, and adult onset, based on the age at which the symptoms begin. The symptoms are more severe the earlier the onset, with the highest severity seen in congenital onset.With later onset, symptoms may be milder.
Symptoms include skeletal muscle weakness, atrophy, and myotonia, which progressively worsen over time. The skeletal muscles that are most commonly affected include the facial muscles, the hands, the feet, and the neck.
Heart problems are common with DM 1, and muscle weakness can also interfere with breathing, especially during sleep. The most common digestive problem is constipation, but diarrhea can occur as well.
Pregnant people may have problems during labor and delivery due to weakness and prolonged contractions of the uterine muscles. Some people with DM 1 may experience lifelong learning problems.
DM 2
DM 2 begins in adulthood, typically between the ages of 20 to 40. Symptoms include skeletal muscle weakness, atrophy, myotonia, and enlargement of the calves. The muscles most commonly affected include the muscles of the thighs, upper arms, and trunk. Heart involvement, digestive problems, and pregnancy issues are not common.
Overall, the symptoms and progression of DM 2 are not as severe as those of DM 1, and it is not associated with cognitive problems.
Causes of Myotonic Muscular Dystrophy
It is not completely clear why some associated problems that do not directly affect muscles (insulin resistance, baldness, and cataracts) develop with DM1 and DM2.
The genetic defect of DM 1 is associated with anticipation, which is used to describe an earlier onset of symptoms with each generation. With each generation, the DNA expansion can elongate, resulting in a more obvious effect of protein deficiency. Anticipation is not a characteristic of DM 2.
Myotonic muscular dystrophy is one of the types of muscular dystrophy, and the symptoms often resemble those of the other muscular dystrophies.
It is estimated that myotonic muscular dystrophy affects about one in 8,000 people worldwide.
Physical Examination
Your healthcare provider may also order diagnostic tests if you have symptoms and signs of myotonic muscular dystrophy, including the following.
Electromyography (EMG)
AnEMGis an electrical examination of the muscles. It is very useful, and while it is slightly uncomfortable, it is not painful. During the test, your healthcare provider places a tiny needle in your muscles which allows your muscle and nerve activity to be measured into a computer.
Myotonia produces a specific pattern on an EMG test, which is a range in the frequency of muscle contraction (how fast the muscles contract) between 20 and 80 Hertz and a variation of the amplitude (the size of the muscle contractions).
The most defining feature of myotonic muscular dystrophy on EMG is a sound that is described as resembling an acceleration and deceleration of an engine, often described as similar to the sound of a dive-bomber. Someone trained in performing and interpreting this test would be familiar with this sound.
Muscle Biopsy
Amuscle biopsyis not diagnostic of myotonic muscular dystrophy because it is expected to show muscle fiber degeneration, which is common with many types ofmyopathies(muscle diseases) and muscular dystrophies. Nevertheless, you may have a muscle biopsy if your healthcare provider needs it to rule out another condition.
A muscle biopsy is a sample of muscle tissue, usually taken from an affected muscle, which is then examined under a microscope. This is a minor surgical procedure that requires an injection of local pain medication. After the procedure, you will need stitches for your wound, and you will need to avoid excess movement or strain of the biopsy area for about a week until it heals.
How Myotonic Muscular Dystrophy Is Treated
There is no cure for either DM 1 or DM 2. The treatment is focused on the relief of symptoms and the prevention of complications.
Anesthesia Issues
Anesthesia care is one of the most important aspects of myotonic muscular dystrophy treatment. If you have this condition, routine general anesthesia can be especially dangerous because the muscles that control your heart and your respiratory (breathing) muscles can relax more than usual or for longer than usual in response to the medications used for anesthesia.
To avoid complications, you need to have an experienced anesthesiologist closely monitoring your condition during any surgical procedures that require general anesthesia.
Regularly scheduled assessment of heart function is part of the management of myotonic muscular dystrophy. Treatment for heart rhythm abnormalities and heart failure will be initiated if and when any heart problems are identified. If you have bradycardia that does not improve with medication, you may need to have apacemakersurgically implanted to regulate your heart rhythm.
Respiratory Function
As with your heart function, your breathing function will be regularly assessed. If you develop breathing problems, you will be treated with oxygen or you may be prescribed a mechanical breathing device. This type of assistive breathing device is usually needed for sleep and is rarely required during waking hours.
Insulin resistance causes elevated blood sugar, which can cause major health complications. Insulin resistance can be easily diagnosed with a blood test, and it can be well managed with diet and medication to prevent complications. Because of the risk of insulin resistance, it is important that you have your blood sugar checked at regular intervals if you have DM 1 or DM 2.
If you have digestive problems due to your myotonic muscular dystrophy, your healthcare provider may send you to a digestive specialist, and you will be given dietary guidance and possibly medications to manage your symptoms.
Obstetrical Problems
If you have DM 1, a maternal-fetal medicine obstetrician who is familiar with high-risk conditions should manage your prenatal care and delivery. Your healthcare providers will closely monitor your pregnancy and delivery and adapt to unexpected complications as needed. Due to the muscle problems that may occur, you may need a cesarean section, but this type of decision depends on your specific situation.
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What Is the Prognosis for Someone With Myotonic Muscular Dystrophy?
The prognosis for someone with myotonic muscular dystrophy can vary depending on type, symptoms, and age of onset. People with DM1 myotonic muscular dystrophy may have a reduced life expectancy if they have severe muscle weakness, cardiac defects, or were diagnosed at a younger age. People with DM1 who have milder symptoms and people with DM2 often have a normal lifespan.
Coping With Myotonic Muscular Dystrophy
The fatigue, learning difficulties, and muscle weakness that accompany myotonic muscular dystrophy are challenges that require individualized strategies. These problems are not treatable with medication or physical therapy, but rather with lifestyle adjustments.
It is important to get enough rest when you feel sleepy or physically exhausted when you have myotonic muscular dystrophy.
If you think that learning difficulties could be a problem, it is best to have a formal evaluation as soon as possible and to take steps to ensure that you or your child enrolls in an appropriate educational program.
If your muscle weakness is associated with choking on food, it is best to have a speech and swallow evaluation and to adopt strategies for safe eating, such as chewing and swallowing your food carefully or eating soft foods.
Summary
Myotonic muscular dystrophy is a type of muscular dystrophy that causes weakness of the skeletal muscles and internal organs like the heart and digestive system.
An Overview of Muscular Dystrophy
4 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.What is mytonic dystrophy.Soltanzadeh P.Myotonic dystrophies: A genetic overview.Genes (Basel). 2022;13(2):367. doi:10.3390/genes13020367Yum K, Wang ET, Kalsotra A.Myotonic dystrophy: Disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Curr Opin Genet Dev. 2017;44:30-37. doi:10.1016/j.gde.2017.01.007García-Puga M, Saenz-Antoñanzas A, Matheu A, López de Munain A.Targeting myotonic dystrophy type 1 with metformin.Int J Mol Sci. 2022;23(5):2901. doi:10.3390/ijms23052901Additional ReadingBabačić H, Goldina O, Stahl K, et al.How to interpret abnormal findings of spirometry and manometry in myotonic dystrophies?J Neuromuscul Dis. 2018;5(4):451-459. doi:10.3233/JND-180331Franco R, Miranda M, Di Renzo L, Barlattani A, De Lorenzo A, Bollero P.Oral management of Steinert’s disease and role of anxiolysis.J Contemp Dent Pract. 2018;19(9):1157-1160.
4 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.What is mytonic dystrophy.Soltanzadeh P.Myotonic dystrophies: A genetic overview.Genes (Basel). 2022;13(2):367. doi:10.3390/genes13020367Yum K, Wang ET, Kalsotra A.Myotonic dystrophy: Disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Curr Opin Genet Dev. 2017;44:30-37. doi:10.1016/j.gde.2017.01.007García-Puga M, Saenz-Antoñanzas A, Matheu A, López de Munain A.Targeting myotonic dystrophy type 1 with metformin.Int J Mol Sci. 2022;23(5):2901. doi:10.3390/ijms23052901Additional ReadingBabačić H, Goldina O, Stahl K, et al.How to interpret abnormal findings of spirometry and manometry in myotonic dystrophies?J Neuromuscul Dis. 2018;5(4):451-459. doi:10.3233/JND-180331Franco R, Miranda M, Di Renzo L, Barlattani A, De Lorenzo A, Bollero P.Oral management of Steinert’s disease and role of anxiolysis.J Contemp Dent Pract. 2018;19(9):1157-1160.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Muscular Dystrophy Association.What is mytonic dystrophy.Soltanzadeh P.Myotonic dystrophies: A genetic overview.Genes (Basel). 2022;13(2):367. doi:10.3390/genes13020367Yum K, Wang ET, Kalsotra A.Myotonic dystrophy: Disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Curr Opin Genet Dev. 2017;44:30-37. doi:10.1016/j.gde.2017.01.007García-Puga M, Saenz-Antoñanzas A, Matheu A, López de Munain A.Targeting myotonic dystrophy type 1 with metformin.Int J Mol Sci. 2022;23(5):2901. doi:10.3390/ijms23052901
Muscular Dystrophy Association.What is mytonic dystrophy.
Soltanzadeh P.Myotonic dystrophies: A genetic overview.Genes (Basel). 2022;13(2):367. doi:10.3390/genes13020367
Yum K, Wang ET, Kalsotra A.Myotonic dystrophy: Disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Curr Opin Genet Dev. 2017;44:30-37. doi:10.1016/j.gde.2017.01.007
García-Puga M, Saenz-Antoñanzas A, Matheu A, López de Munain A.Targeting myotonic dystrophy type 1 with metformin.Int J Mol Sci. 2022;23(5):2901. doi:10.3390/ijms23052901
Babačić H, Goldina O, Stahl K, et al.How to interpret abnormal findings of spirometry and manometry in myotonic dystrophies?J Neuromuscul Dis. 2018;5(4):451-459. doi:10.3233/JND-180331Franco R, Miranda M, Di Renzo L, Barlattani A, De Lorenzo A, Bollero P.Oral management of Steinert’s disease and role of anxiolysis.J Contemp Dent Pract. 2018;19(9):1157-1160.
Babačić H, Goldina O, Stahl K, et al.How to interpret abnormal findings of spirometry and manometry in myotonic dystrophies?J Neuromuscul Dis. 2018;5(4):451-459. doi:10.3233/JND-180331
Franco R, Miranda M, Di Renzo L, Barlattani A, De Lorenzo A, Bollero P.Oral management of Steinert’s disease and role of anxiolysis.J Contemp Dent Pract. 2018;19(9):1157-1160.
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