With a frequency of four to five patients per 100,000 inhabitants, myasthenia gravis is one of the rarer diseases. Most people who develop the disease are between 30 and 40 years old. In the juvenile form, however, the first symptoms can already appear in childhood and adolescence.
Myasthenia gravis is not a disease of the muscles themselves. It is a nerve disease in which the transmission of signals between the nerve and muscle cells is disturbed.
At the onset of the disease, those affected often notice a reduction in vision. They see double vision, especially during the course of the day and when tired. Due to exhaustion of the upper eyelids, they can no longer open their eyes fully.
In around 90 percent of patients, the paralysis that occurs as part of this so-called ocular myasthenia progresses. This leads to
- general weakness of the facial muscles,
- swallowing and speech difficulties and
- a heavy head (due to a weakening of the neck muscles).
As a rule, the symptoms are more pronounced during exertion and in the evening than in the morning.
Myasthenia gravis | Source: Wikipedia / License: Creative Commons 2.0
After a recovery phase, the symptoms appear less severe. As myasthenia gravis progresses, the extremities are also affected by the weakness and paralysis. The symptoms then mainly affect the arms.
Breathing is also impaired. Patients with pronounced symptoms can then only sleep in a sitting position or even have to be ventilated.
In particularly severe cases, a myasthenic crisis can develop. This life-threatening neurological emergency is characterized by
- acute respiratory distress and
- severe generalized muscle weakness with swallowing disorders
characterized.
However, thanks to the therapeutic options available today, only around 10 percent of all myasthenia patients suffer from such severe courses.
The neuromuscular transmission disorder, i.e. the disruption of signal transmission between nerves and muscles, is caused by so-called autoantibodies. They attack the body's own tissue. In myasthenia gravis, the autoantibodies are directed against a part of the neuromuscular endplate, which is responsible for transmitting nerve signals from the nerve to the muscles.
In more than 85 percent of cases, the receptor of the neurotransmitter acetylcholine is affected. This is a neurotransmitter. It transmits the signals from the nerves to the muscles and ensures contraction and thus movement.
If the receptor, i.e. the binding site of this neurotransmitter, is blocked or destroyed by the antibodies, the muscles receive few or, in severe cases, no signals at all from the brain. As a result, the muscle reacts only weakly or is even completely paralyzed.
How and why these autoantibodies develop has not yet been fully clarified. However, researchers suspect a connection between myasthenia gravis and the thymus. This is an organ in which various immune cells are produced in the first few years of life. In adulthood, this gland no longer actually fulfills any tasks.
Around 10 percent of all patients with myasthenia gravis have a tumor in the thymus gland. In more than half of all patients, thymitis, i.e. inflammation of the gland with increased activity, can also be detected.
Various factors can also influence the severity of the symptoms. These include
- Environmental influences
- psychological stress
- Other illnesses and infections
- Inflammation in the body
The diagnosis begins with a medical history(anamnesis). The doctor will ask where exactly the muscle weakness occurs and how long the patient has been suffering from the symptoms.
If myasthenia gravis is suspected, the doctor can carry out various tests. In the Simpson test, the patient must look up for as long as possible and keep their eyes wide open. Rapid fatigue of the eyelids then indicates muscle weakness.
Individual nerves are also stimulated to make a diagnosis. A special device records the response of the muscle. This reveals characteristic changes in muscle activity. A laboratory analysis can confirm the suspicion of myasthenia gravis.
The specific autoantibodies can be detected in a blood sample in the majority of patients. However, a laboratory examination of muscle tissue is much more reliable than a blood test. The changes in the thymus typical of the disease, on the other hand, can only be detected using computer tomography.
Myasthenia gravis cannot be cured, which means that treatment only serves to alleviate the symptoms.
Some patients experience a spontaneous attenuation of symptoms(remission) within a year of the first symptoms appearing. The remission can be temporary or permanent. In milder forms of myasthenia gravis, a wait-and-see approach is therefore adopted.
If there is no remission, removal of the thymus gland, known as a thymectomy, is the usual treatment procedure. A tumor in the thymus gland must also be operated on.
To improve signal transmission from the nerves to the muscles, the doctor prescribes acetylcholinesterase inhibitors. These inhibitors prevent or alleviate the breakdown of the neurotransmitter. As a result, it is temporarily more present and can fulfill its task as a messenger substance.
Glucocorticoids are also available as a drug therapy. They can weaken the effect of the antibodies.
In particularly severe cases, plasmapheresis can be useful. In this procedure, the blood of myasthenia patients is cleansed of the circulating antibodies. This can at least temporarily alleviate the symptoms.
The course of myasthenia gravis varies greatly, making a general prognosis almost impossible. The majority of patients respond well to adequate treatment. They can lead a normal life with few restrictions.
However, if left untreated, severe complications can occur, which may be fatal. Today, however, the disease is usually detected and treated at an early stage. Therefore, such life-threatening courses of the disease are rather rare.
Myasthenia gravis is a disease of the nervous system. The right contact for patients with this disease is therefore a neurologist. After studying medicine, a neurologist has completed 5 years of training to become a specialist in neurology.
Neurology is the specialty of neurology.