Steinert’s Disease: Causes, Symptoms And Treatment

Steinert’s myotonic dystrophy is a disease that weakens muscles and other organs.

Steinert’s disease, the most common form of myotonic muscular dystrophy in adults, is a form of dystonia that affects both voluntary muscles and many other organs in the body.

Steinert’s is one of the most variable and heterogeneous diseases known, as it occurs in very different ways in terms of severity, age of onset and affected systems: from the brain, vision and the immune system to the skin and the reproductive system. Know what is the cause of this disease and how it manifests itself in those who suffer from it.

What is Steinert’s disease?

Steinert’s disease, first described in 1909, is a type of genetically transmitted muscular dystrophy. A mutation in the gene that is involved in normal muscle function prevents the muscles from doing their job properly. It is an autosomal dominant mutation, so if one of the two parents has the mutation, there is a 50% chance that the child will manifest this mutation.

For the diagnosis, therefore, it is necessary to carry out a complete family anamnesis, physical examination and laboratory tests. Final confirmation is obtained through genetic testing. The patient’s blood will be tested to see if it contains the gene mutation that is described as causing Steinert’s disease. Nowadays it is also possible to do a prenatal test and find out if the fetus’ DNA contains this mutation and if it will develop the disease.

Because there are many muscle disorders that can be similar to Steinert’s disease, diagnosis is often delayed, as symptoms are confused and other diseases need to be ruled out first. For this reason, doctors must be very aware of the wide range of variability with which the disease occurs and reach the diagnosis as soon as possible.

Interestingly, a phenomenon called “anticipation” occurs in this disorder. The disease is diagnosed earlier and earlier in each generation, resulting in greater severity of symptoms.

Steinert’s disease symptoms

It is characterized by the progressive deterioration of the voluntary muscles, becoming weaker and difficult to control. The deterioration translates into myopathy, that is, a muscle weakness that makes contraction difficult and does not allow the same degree of tension as a normal person to obtain. For example, due to difficulty in moving the facial muscles, they will have difficulty articulating sounds.

Also, people with Steinert’s disease lengthen muscle contractions and are unable to relax certain muscles after using them. This is called myotonia. For example, after shaking someone’s hand or grasping a doorknob to open a door, they may find it very difficult to relax it.

1. Neurological manifestations

The intelligence of people with Steinert’s disease is normal, but due to muscle difficulties they may have learning problems and a delay in development. Damage to the nerves of the feet and hands and excessive daytime sleepiness can be found , partly associated with the effort of having the muscles in tension for longer than the volunteer.

These people often feel exhausted, so they reduce their activity, affecting both their work and their daily life. As the disease progresses, they neglect pleasant activities , affecting their mood.

It is not unusual to find cataracts in the vision of patients with Steinert, damage to the retina or drooping eyelids due to muscle weakness in the parts responsible for keeping them open.

2. Cardiorespiratory problems

Newborns are frequently found to have respiratory problems as well as lung infections. Due to muscle weakness, people with Steinert’s disease can aspirate, that is, breathe in liquids or solids through the airways, causing the lungs to flood. Many patients find it difficult to breathe enough air and do not oxygenate all that well. As muscle tone is lost, it happens that when sleeping the airways can be partially obstructed, causing sleep apneas.

Heart problems in the disease include rhythm disturbances, muscle hypertrophy, decreased blood pressure, and, in some cases, sudden death. They can also present hormonal peculiarities such as insulin resistance, or premature frontal baldness in men. In addition, lower levels of antibodies are found in the blood.

3. Other affected systems

The gastrointestinal system is also affected. Patients have swallowing problems and pain and swelling after meals. The digestive tract is affected such as constipation, diarrhea, irritable bowel syndrome, and gastrointestinal reflux. Gallstones are very common, becoming a reason for intervention in up to a third of patients.

The reproductive system suffers the consequences of the disorder: the testes are smaller, fewer sperm and less testosterone in men, hindering fertility. Women with Steinert’s disease are also more likely to have a miscarriage and have more problems during delivery.


Although there is no cure for Steinert’s disease, it is possible to perform symptomatic management to improve the patient’s quality of life. In addition to a medical intervention for each specific symptom, it will be necessary to perform rehabilitative physical therapy with a physiotherapist to acquire or maintain muscle tone as much as possible.

Occupational therapy will be very useful to keep the patient active and that inactivity does not fall into helplessness, thus preventing muscle atrophy and slowing down degeneration. A speech therapist can be very helpful for those patients who have difficulty articulating sounds.

The figure of the psychologist can be a fundamental help to deal with the mental problems that such a limiting disease entails and, above all, to  rekindle the patient’s motivation . It is vital that you take charge of your treatment and do not remain passive about your illness, for which it is good that the treatment between the healthcare team and the patient’s relatives is fluid.

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