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 presents in very diverse forms in its severity, age of onset and affected systems: from the brain, vision and immune system to the skin and the reproductive system. Learn what the cause of this disease is and how it manifests itself in those who suffer from it.
Steinert’s disease, first described in 1909, is a type of genetically transmitted muscular dystrophy A mutation in the gene involved in normal muscle function prevents them from carrying out their task 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 said mutation.
For diagnosis, it is therefore necessary to perform a complete family history, physical examination and laboratory tests. Final confirmation is obtained through a genetic test. The patient’s blood will be tested to see if it contains the gene mutation described as causing Steinert disease. Nowadays it is also possible do a prenatal test and find out if the fetus’s DNA contains this mutation and whether you will develop the disease.
Because there are many muscle disorders that can be similar to Steinert’s disease, the diagnosis is often delayed, as the symptoms are confused and it is necessary to rule out other diseases first. For this reason, doctors must be very aware of the wide range of variability with which the disease presents and reach a diagnosis as soon as possible.
Curiously, in this disorder a phenomenon called “anticipation” occurs. The disease is diagnosed earlier and earlier in each generation resulting in greater severity of symptoms.
Symptoms of Steinert’s disease
It is characterized by the progressive deterioration of voluntary muscles, becoming weaker and harder to control. The deterioration translates into a myopathy, that is, a muscle weakness that makes contraction difficult and does not allow the same degree of tension as a normal person. For example, due to difficulty moving their facial muscles, they will have difficulty articulating sounds.
Additionally, 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 grabbing a handle to open a door, they may find it very 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 problems and a delay in development. Damage to the nerves in the feet and hands and excessive daytime sleepiness may be found, associated in part with the effort involved in having the volunteer’s muscles tense for longer periods of time.
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 muscle weakness in 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 aspirate bronchodilators, that is, inhaling liquids or solids through the respiratory tract, eventually flooding the lungs. Many patients have difficulty breathing enough air and do not oxygenate well at all. As muscle tone is lost, it happens that when sleeping the airways can become partially obstructed, causing sleep apnea.
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 are found in the blood.
3. Other systems affected
The gastrointestinal system is also affected. Patients have swallowing problems and pain and swelling after meals. The digestive tract is affected such that constipation, diarrhea, irritable bowel syndrome and gastrointestinal reflux are found. 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 testicles are smaller, a lower 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 childbirth.
Treatment
Although there is no cure for Steinert’s disease, it is possible perform symptomatic management to improve the patient’s quality of life In addition to 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 for keep the patient active and prevent inactivity from falling into helplessness, thus preventing muscle atrophy and stopping degeneration. A speech therapist can be very useful for patients who have difficulties with articulating sounds.
The figure of the psychologist can be a fundamental help to deal with the emotional problems that such a limiting illness entails and, above all, to revive the patient’s motivation. It is vital that you take charge of your treatment and do not remain in a passive attitude regarding your illness, for which it is good that the treatment between the healthcare team and the patient’s family is fluid.
