Rare diseases, often poorly understood and studied, represent a complex universe of pathologies that affect a limited number of individuals in the population.
Rare diseases, often poorly understood and studied, represent a complex universe of pathologies that affect a limited number of individuals in the population. Among these, myasthenia gravis, an autoimmune disease, constitutes an interesting field of research for Professor Gabriele Siciliano, an expert in Neurology at the University of Pisa and director of the Neurological Clinic of the Pisan University Hospital. He is also a leading member of the Italian Society of Neurology (Sin).
Myasthenia gravis is a neurological condition that affects the neuromuscular junction, the point where motor nerves meet skeletal muscles to transmit nerve impulses and generate movement. In myasthenia gravis, this transmission of the impulse is interrupted due to the action of autoimmune antibodies that attack the motor nerve and hinder the passage of the impulse to the muscle. As a result, the muscle fails to contract properly and general muscle weakness occurs, accompanied by symptoms such as droopy eyelids, double vision and muscle fatigue.
Myasthenia gravis can occur at any age, but the most common form is generalized myasthenia gravis, which mainly affects women between 20 and 40 and men between 50 and 80. However, cases of this autoimmune disease in childhood are rarer.
According to Professor Siciliano, the key to treating myasthenia gravis is to intervene on the pathogenesis of the disease, ie on the causes and mechanisms that underlie it. He argues that “disease modifying” therapy, which aims to modify the disease itself, is essential for obtaining excellent results in the treatment of myasthenia gravis. The understanding of the pathological basis of the disease and the use of new drugs are two key points for the treatment of this condition.
Thanks to new biotechnical and pharmacological technologies, alternative drugs to more traditional treatments, such as corticosteroids, have been developed for myasthenia gravis. These new drugs focus on both improving nerve impulse transmission to muscles and controlling the autoimmune inflammatory process underlying the disease. Professor Siciliano points out that while some of these drugs may be more expensive, they have the advantage of having fewer side effects than previous treatments.
Early diagnosis of myasthenia gravis is essential for initiating treatment promptly and improving the prospects for recovery. With the help of specific tests for the dosage of antibodies, it is now possible to identify this disease more quickly and precisely, allowing for the timely initiation of therapy.
Relying on the neurologist is essential for patients with myasthenia gravis, as this specialized figure is able to better manage the complexity of this disease and offer a careful and targeted evaluation of the most suitable drugs for each patient.
The project “Protect your brain, entrust yourself to the neurologist,” born from the collaboration between Sin and beraking latest news, aims to raise awareness among the population on neurological pathologies and on the importance of contacting a neurology specialist when the first ones appear symptoms. Awareness and knowledge of neurological diseases, such as myasthenia gravis, can lead to more timely diagnosis and treatment, offering a better quality of life for patients affected by these rare and often complex diseases.
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