Myotonic muscular dystrophy, which is sometimes called myotonic dystrophy, is a key in ofmuscular dystrophy.
DM 1 is also called Steinerts disease.
Myotonic muscular dystrophy is typically also characterized by delayed muscle relaxation.
Verywell / Emily Roberts
This article discusses myotonic muscular dystrophy and its causes, symptoms, and prognosis.
It also goes over the diagnosis and treatment of this condition.
What Are the Symptoms of Myotonic Muscular Dystrophy?
Get our printable guide for your next healthcare provider’s appointment to help you ask the right questions.
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.
Muscle Atrophy
Atrophyis the loss of muscle.
It causes further weakness and produces an appearance of thinning muscles.
Myotonia can affect skeletal muscles as well as the muscles of the internal organs.
For instance, it can cause the heart to beat slowly or slow digestive function.
Heart problems are more common with DM 1 than with DM 2.
This characteristic appearance often includes ptosis (drooping eyelids), sagging jaw, a narrow face.
These symptoms are brought on by the weakening of the facial musculature.
Symptoms include skeletal muscle weakness, atrophy, and myotonia, which progressively worsen over time.
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.
Causes of Myotonic Muscular Dystrophy
Myotonic muscular dystrophy is ahereditary condition.
Each of the two types is due to a different genetic error that results in defective muscle function.
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 isdiagnosedbased on the symptoms, physical examination, and diagnostic tests.
It is estimated that myotonic muscular dystrophy affects about one in 8,000 people worldwide.
Electromyography (EMG)
AnEMGis an electrical examination of the muscles.
It is very useful, and while it is slightly uncomfortable, it is not painful.
Someone trained in performing and interpreting this test would be familiar with this sound.
Nevertheless, you may have a muscle biopsy if your healthcare provider needs it to rule out another condition.
This is a minor surgical procedure that requires an injection of local pain medication.
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.
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.
Respiratory Function
As with your heart function, your breathing function will be regularly assessed.
This key in of assistive breathing gear is usually needed for sleep and is rarely required during waking hours.
Insulin resistance causes elevated blood sugar, which can cause major health complications.
Your healthcare providers will closely monitor your pregnancy and delivery and adapt to unexpected complications as needed.
Get our printable guide for your next healthcare provider’s appointment to help you ask the right questions.
What Is the Prognosis for Someone With Myotonic Muscular Dystrophy?
People with DM1 who have milder symptoms and people with DM2 often have a normal lifespan.
These problems are not treatable with medication or physical therapy, but rather with lifestyle adjustments.
Myotonic muscular dystrophy is a hereditary condition brought on by problems with the genes that control muscle function.
There is no cure for the condition.
Treatment is focused on symptom relief and preventing complications.
Muscular Dystrophy Association.What is mytonic dystrophy.
Soltanzadeh P.Myotonic dystrophies: A genetic overview.Genes (Basel).
2018;19(9):1157-1160.
