Steinert's disease: causes, symptoms and treatment
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 of the body.
Steinert's is one of the most variable and heterogeneous diseases that are known, since it occurs in very different ways in its 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.
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What is Steinert's disease?
Steinert's disease, first described in 1909, is a type of muscular dystrophy genetically transmitted . A mutation in the gene that intervenes in the normal function of the muscles prevents them from carrying out their task properly. It is an autosomal dominant mutation, so that if one of the two parents has the mutation, there is a 50% chance that the child manifests this mutation.
For the diagnosis it is necessary, therefore, to carry out a complete family history, physical examination and laboratory tests. The final confirmation is obtained through a genetic test. The patient's blood will be analyzed to see if it contains the mutation of the gene that is described as causing Steinert's disease. Nowadays it is also possible do a prenatal test and know if the DNA of the fetus contains this mutation and if it will develop the disease.
Because there are many muscle disorders that can be similar to Steinert's disease, the diagnosis is often delayed, because the symptoms are confused and it is necessary to rule out other diseases before. For this reason, physicians should bear in mind 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 more and more early in each generation , resulting in greater severity of symptoms.
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Symptoms of Steinert's disease
It is characterized by progressive deterioration of voluntary muscles , becoming weaker and harder to control. The deterioration translates into a myopathy, that is, a muscle weakness that hinders contraction and does not allow to obtain the same degree of tension as a normal person. For example, due to the difficulty to move the facial musculature, they will have difficulties when articulating sounds.
In addition, 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 holding someone's hand or grabbing a knob to open a door, it may be very difficult for them to relax.
1. Neurological manifestations
The intelligence of people with Steinert's disease is normal, but due to muscular 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, associated in part with the effort of having the muscles tense longer than the volunteer.
These people often feel exhausted, so they reduce their activity, affecting both their work and their daily lives. As the disease progresses, they leave aside pleasurable activities , affecting your mood .
It is not unusual to find cataracts in the vision of patients with Steinert, damage to the retina or drooping eyelids due to the muscular weakness of the parts responsible for keeping them open.
2. Cardiorespiratory problems
It is common to find that newborns have respiratory problems, as well as lung infections. Due to muscle weakness, people with Steinert's disease can wheeze , that is to say, to suck liquids or solids through the respiratory tract, getting to flood the lungs. Many patients have difficulty breathing enough air and do not oxygenate at all well. As muscle tone is lost, it occurs 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 may also present hormonal peculiarities such as insulin resistance, or premature frontal baldness in men. In addition, lower levels of antibodies in blood are found.
3.Other affected systems
The gastrointestinal system is also affected. Patients have problems with swallowing and pain and swelling after meals. The digestive tract is affected so that it is constipation, diarrhea, irritable bowel syndrome and gastrointestinal reflux. Gallstones are very frequent , becoming the reason for intervention of up to a third of patients.
The reproductive system suffers the consequences of the disorder: the testes are smaller, a smaller number of sperm and less testosterone in men, hindering fertility. Women with Steinert's disease, in addition, are more likely to suffer a miscarriage and present more problems during delivery.
Treatment
Although there is no cure for Steinert's disease, it is possible perform a symptomatic management to improve the quality of life of the patient . In addition to a medical intervention for each specific symptom, it will be necessary to perform physical rehabilitation therapy with a physiotherapist to acquire or maintain muscle tone as much as possible.
Occupational therapy will be very useful for keep the patient active and that inactivity does not fall into inactivity , thus preventing muscle atrophy and slowing degeneration. A speech therapist can be very useful for those patients who have difficulties with the articulation of sounds.
The figure of the psychologist can be a fundamental aid to deal with the mental problems that entails such a limiting illness 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 health team and the patient's family is fluid.
