Myasthenia Gravis Awareness Day: 10 Warning Signs of a Rare Disease

In the world of medicine, some diseases present unique challenges due to the similarity of their symptoms to other pathologies. myasthenia gravis, A chronic autoimmune neuromuscular disease, is a prime example of this. Patients often experience symptoms such as drop one or both eyelids (eyelid ptosis), double vision (diplopia), weakness in legs and armsAnd difficulty chewing and swallowing. These symptoms can be easily confused for diseases such as fibromyalgia, lupus wave Rheumatoid arthritiswhich delays diagnosis and therefore its treatment.

Myasthenia gravis occurs when the immune system blocks receptors necessary for proper muscle contraction. These receptors are attacked antibodiesmainly ACRA (anti-acetylcholine receptor antibodies), which interfere with the transmission of nerve signals to the muscles and cause them to weaken.

early detection and accurate diagnosis They are necessary to prevent exacerbations and myasthenic crises, improve quality of life and achieve symptom reduction. Late diagnosis can lead to unnecessary suffering and additional risks for patients.

In Argentina, FRIENDLY NGO (Association Myasthenia Gravis Rosario) has been supporting patients and their families for over 25 years.

The organization not only offers information and helpbut also drives research about illness. A significant achievement of AMIGRO was the adoption in 2013 of Law No. 26903, which established June 2 as “Day of a person with myasthenia gravis” and the corresponding week as “Week against myasthenia gravis” to raise awareness of the importance of their diagnosis.

Myasthenia gravis is rare diseasewith a predominance between 15 and 40 people per 100 thousand inhabitants in the world. It can appear at any age, but there are two peaks of incidence: between 20 and 40 yearswhen the number of cases among women exceeds the number of cases among men, and between 55 and 65 yearss where cases balance out and tend to develop more favorably.

In children and adolescents, drug treatment requires special precautions due to possible side effects of the drugs. corticosteroids in growth.

Doctor Esteban Calabreseneurologist, head of the neuromuscular diseases department of the Spanish Hospital Rosario, Santa Fe and specialist at INECO Neurociencias Oroño, stressed the need for continuous training of healthcare workers so that they can recognize the changing symptoms of myasthenia gravis.

“There are symptoms that can confuse the doctor and mask myasthenia gravis. In many patients, the neck droops and, due to the efforts to keep the head in an upright position, they begin to suffer from neck pain, and therefore turn to a traumatologist; In some cases they are found osteoarthritis at the level of the cervix and are to blame for this. Another confusion arises with elderly patients over 80 or 90 years of age. A professional notices that he cannot pronounce words well, He does an MRI and, if there is vascular damage, he blames cerebrovascular accident (CVA),” the doctor explained. Information.

He diagnosis correctly and early allows you to start care adequate, which can modulate the patient’s immune system and thus prevent the progression of the disease and the occurrence of respiratory crises that may require hospitalization.

The diagnosis of myasthenia gravis requires comprehensive clinical examination, laboratory tests and neurological examinations. Symptoms that should alert patients include:

1. Drooping of one or both eyelids (eyelid ptosis)
2. Double vision (diplopia)
3. Difficulty holding your gaze or closing your eyes.
4. speech disorder (low, guttural or nasal voice)
5. Problems with chewing and swallowing food. (pressure, choking or drooling)
6. Changes in gestures and facial expressions.
7. Difficulty holding your jaw
8. Weakness in legs and arms (especially when climbing stairs, lifting objects, or standing)
9. Neck muscle fatigueholding my head with difficulty
10. Dyspneadue to weakening of the chest wall muscles.

“The most common symptom myasthenia gravis This is muscle weakness that tends to fluctuate and may be absent in the morning, worsen over time, and appear in the evening. The most common symptoms of extraocular muscle weakness causing eyelid ptosis And diplopia. This is the form of manifestation of the disease in 80% of cases; in 20% of cases it can manifest weakness of voluntary muscles in other parts of the body, Depending on the muscle affected, this may cause symptoms. If it affects the perioral and bulbar muscles, it may cause language disorders when the voice changes, it can cause swallowing disorders. If it affects the arms or legs symmetrically, it gives weakness in these muscles“added the expert.

Calabrese emphasized the need for health care providers to be well informed about myasthenia gravis. “He diagnosis based on background patient and clinical neurological examination, above all. Many people with myasthenia gravis have mild drooping eyelids, double vision, or difficulty swallowing. We have to insist on questioning because this is an unstable disease: the symptoms intensify as the muscles contract more strongly,” he commented.

education and awareness among doctors may help reduce delays in diagnosis.

Among the tips for early detection, Calabrese suggested conducting complete medical history in which the patient is asked about previous episodes of drooping eyelids, double vision, or difficulty chewing and swallowing. He also clarified that it is necessary to take into account the fact that symptoms may worsen during the day with continued use of drugs. affected muscles.

On the other hand, since signs of myasthenia gravis are usually not always apparent, filming sequences muscle weakness, The healthcare professional can use it to analyze the video and plan appropriate treatment based on the diagnosis. Moreover, it is a mistake to limit diagnostic evaluation to one specialty; it is necessary to take into account the possibility that the patient suffers from this disease, even if other diseases have been discovered that are harmful to his health;

Regarding the main complications of late diagnosis, Dr. Calabrese added: “It rarely leads to myasthenic or respiratory crisis from the very beginning, but poor treatment can cause the patient to experience this complication. On the other hand, failure to respond adequately to treatment when it is started late can be another complication. Finally, there is the potential for disability or respiratory complications.”

Treatment of myasthenia gravis has improved significantly and is now combines pharmacological and non-pharmacological therapy.

On the one side, acetylcholinesterase inhibitors increase acetylcholine levels at the neuromuscular junction, causing improvement in muscle strength. Another alternative is immunosuppressantswhich reduce antibodies which attack acetylcholine receptors. corticosteroids They are also effective, although they require monitoring due to side effects. biological therapyHow monoclonal antibodies and thymectomy (thymus removal) are current promising treatments.

In addition to medications, rehabilitation and physiotherapy They are crucial. An adequate exercise program under professional supervision can improve muscle strength and endurance. He patient environment Also important: avoid heat, stress and ensure good rest These are important aspects. And last but not least: psychological support and family support.

“Psychological support is important for both the patient and his family. The patient gets this disease, but the whole family suffers from it. You have to accompany him, know his limitations, which can be important in the beginning. And then, as therapy responds and becomes more effective, you will achieve a life that is as close as possible to the life you had before the disease was diagnosed or symptoms appeared. That’s why it’s important psychological support for chronic illness– Calabrese emphasized.