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 from the body.
Steinert’s disease is one of the most variable and heterogeneous diseases which are known because they present themselves very differently in their severity, age of onset and affected systems: from the brain, vision and immune system to the skin and reproductive system. Find out 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 interferes with the normal functioning of muscles prevents them from doing their job well. It is an autosomal dominant mutation, so if one of the 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 the complete family history, physical examination and laboratory tests. Final confirmation is obtained by genetic testing. The patient’s blood will be tested to see if it contains the mutation in the gene described as the cause of Steinert’s disease. Today it is also possible do a prenatal test and find out if the fetal DNA contains this mutation and whether he will develop the disease.
Since there are many muscle disorders that can be similar to Steinert’s disease, diagnosis is often delayed as symptoms become confused and other diseases need to be ruled out sooner. Therefore, physicians should keep in mind the great variability with which the disease presents and arrive at the diagnosis as quickly as possible.
Interestingly, in this disorder a phenomenon called “anticipation” occurs. The disease is diagnosed earlier and earlier in each generation, Resulting in increased severity of symptoms.
Symptoms of Steinert’s disease
It is characterized by progressive deterioration of voluntary muscles, Become weaker and harder to control. The deterioration results in myopathy, which is muscle weakness that makes it difficult to contract and does not provide the same level of tension as a normal person. For example, because of the difficulty in moving the muscles of the face, they will have difficulty in articulating sounds.
Additionally, people with Steinert’s disease prolong muscle contractions and are unable to relax certain muscles after using them. This is called myotonia. For example, after shaking someone’s hand or grabbing a button to open a door, they may find it difficult to relax.
1. Neurological manifestations
The intelligence of people with Steinert’s disease is normal, but due to muscle difficulties they may have learning difficulties and developmental delay. Damage to the nerves of the feet and hands and excessive daytime sleepiness may be noted, in part associated with the effort involved in tending the muscles longer than the volunteer.
These people often feel exhausted, reducing their activity, affecting both their work and their daily life. As the disease progresses, they put aside pleasant activities, Affecting your mood.
It is not uncommon to find cataracts in the vision of patients with Steinert’s, damage to the retina or drooping eyelids due to muscle weakness in the parts responsible for keeping them open.
2. Cardiorespiratory problems
It is common for babies to have breathing problems as well as lung infections. Due to muscle weakness, people with Steinert’s disease may have bronchial aspirationIn other words, suck liquids or solids through the airways, reaching the lungs. Many patients find it difficult to breathe enough air and do not oxygenate properly at all. When muscle tone is lost, it happens that during sleep, the airways can partially obstruct, causing sleep apnea.
Heart problems associated with the disease include rhythm changes, muscle enlargement, low blood pressure, and in some cases sudden death. They may also exhibit hormonal peculiarities such as insulin resistance or premature frontal baldness in men. In addition, lower levels of antibodies in the blood are found.
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 so that there is constipation, diarrhea, irritable bowel syndrome, and gastrointestinal reflux. Gallstones are very common, Become the subject of intervention by up to a third of patients.
The reproductive system suffers the consequences of the disorder: the testes are smaller, less sperm and less testosterone in men, which affects fertility. Women with Steinert’s disease too they are more likely to have a miscarriage and present more problems during childbirth.
Although there is no cure for Steinert’s disease, it is possible provide symptomatic management to improve the patient’s quality of life. In addition to medical intervention for each specific symptom, physical rehabilitation therapy should be performed with a physiotherapist to acquire or maintain muscle tone as much as possible.
Occupational therapy will be very helpful for keep the patient active and not fall into helpless inactivity, Thus preventing muscle atrophy and slowing down degeneration. A speech-language pathologist can be very helpful for patients who have difficulty articulating sounds.
The figure of the psychologist can be a fundamental help in solving the mental problems that such a limiting illness entails and, above all, in reviving the patient’s motivation. It is essential that you take the reins of your treatment and not to remain in a passive attitude vis-a-vis their disease, it is thus good that the treatment between the care team and the relatives of the patient is fluid.