Myasthenia

Myasthenia (Myasthenia Gravis) is an autoimmune disorder characterized by impaired transmission of nerve impulses to muscles. This results in weakness and rapid fatigue of skeletal muscles. The primary cause of myasthenia is the production of autoantibodies that block or destroy acetylcholine receptors on the surface of muscle cells.

Myasthenia Gravis is considered a relatively rare condition, although the number of diagnosed cases has been increasing in recent decades. The prevalence is approximately 14–20 cases per 100,000 people. It can occur at any age but is most commonly diagnosed in young women (aged 20–30) and older men (aged 60–80).

Myasthenia can also be associated with other autoimmune diseases. It is important to note that with proper diagnosis and treatment, many patients can lead a full life and manage the symptoms of the disease.

Symptoms indicating the need for diagnosis and treatment

The symptoms of myasthenia vary in severity and depend on the duration of the pathological process.

1. Muscle weakness
   A major symptom that can occur in various muscle groups. Weakness usually worsens with physical activity and stress but decreases after rest.
2. Drooping eyelid or double vision
   Ophthalmoplegia (paralysis of the eye muscles) can occur in double vision or drooping of the upper eyelid (ptosis). These symptoms indicate the involvement of eye muscles in the pathological process and require thorough examination.
3. Dysarthria and dysphagia – difficulty in speaking and swallowing.
4. Limb weakness and rapid fatigue
   Progressive weakness may occur during activities such as climbing stairs, walking, or even performing everyday tasks.
5. Shortness of breath and difficulty breathing
   Although shortness of breath is not a specific sign of myasthenia, it is important to note that the involvement of respiratory muscles in the pathological process is dangerous and requires immediate medical attention. Increasing weakness of respiratory muscles can lead to respiratory failure.

If you notice one or more of these symptoms, especially if they worsen or cause concern, it is recommended to consult a physician for diagnosis and treatment. Many countries, including Germany, Spain, Turkey, and Israel, can offer specialized clinics that treat myasthenia and other neurological disorders.

You can also consult a specialist abroad even in the absence of symptoms, but if there is a family history of autoimmune diseases. If you have relatives with myasthenia or other autoimmune conditions, the risk of developing myasthenia is significantly higher.

Diagnostic and treatment methods in international clinics

Diagnostic

Given that symptoms characteristic of Myasthenia Gravis can also occur in other neurological disorders, accurate and comprehensive diagnostics are crucial for selecting the appropriate treatment. What does the diagnostic spectrum abroad include today?

1. Clinical physical and neurological examination with reflex assessment
2. Electrophysiological tests
   Single-fiber electromyography (SFEMG): used to assess the electrical activity of muscles and identify abnormalities in nerve impulse transmission.
   Repetitive nerve stimulation (RNS): evaluates muscle response to a series of repetitive electrical impulses to the nerve. This non-invasive diagnostic method is often applied to hand and facial muscles.
3. Laboratory diagnostics
   Blood tests for detecting antibodies, such as: acetylcholine receptor antibodies (AChR-Ab), antibodies to muscle-specific kinase (MuSK), antibodies to muscarinic receptors and antibodies to striational muscle proteins.
   Specialized laboratories abroad are equipped with advanced technology for precise detection and quantification of antibodies, enabling accurate and early diagnosis.
   
4. Imaging techniques
   CT and MRI scans: used to evaluate the size and location of the thymus gland, which is closely linked to myasthenia. Additionally, imaging is used to assess brain structures to exclude pathologies (e.g., tumors) that may present similar clinical symptoms.
5. Pharmacological tests
   Tests with pyridostigmine or edrophonium: both drugs inhibit acetylcholinesterase, temporarily improving neuromuscular transmission. These tests are conducted exclusively in inpatient settings under close medical supervision.

Treatment

There is currently no specific treatment targeting the autoimmune cause of myasthenia. Existing approaches are divided into pharmacological and surgical treatments.

1. Pharmacological therapy:
   Anticholinesterase medications (e.g., pyridostigmine): increase acetylcholine levels at synapses, improving nerve impulse transmission. Help restore muscle strength and endurance.
   Immunomodulating medications: corticosteroids and immunosuppressants reduce immune system activity against the body’s own cells and neutralize aggressive autoantibodies.
2. Plasmapheresis: a procedure in which pathological autoantibodies are removed from the blood, providing temporary symptom relief.
3. Surgical intervention
   Thymectomy: the removal of the thymus gland, an immunomodulating organ, can improve the condition, especially in young patients. Since the thymus regulates the programming of antibodies and determines their targets, improper “programming” of immune cells influences disease progression and the rate of muscle strength decline.
4. Physiotherapy helps patients maintain muscle strength and joint functionality while teaching essential self-care skills.

Innovations in global clinics

The detection of specific antibodies, such as LRP4-Ab, in international clinical practice allows for the early diagnosis of myasthenia, particularly in cases of isolated muscle involvement (e.g., ocular myasthenia).

Monoclonal antibodies
These laboratory-engineered proteins target pathological autoantibodies or disease mechanisms. For instance, eculizumab targets the C5 component of the complement system, which plays a crucial role in the immune attack on the neuromuscular system, significantly improving the patient’s condition.

Monoclonal antibody therapy is increasingly used in international clinics, and new synthetic medications are being researched in clinical trials.