Myasthenia gravis is an autoimmune neurologic disease. It is characterized by the presence of autoantibodies against a specific
muscular receptor in the blood of the
patients. This is due to the fact that the body is reacting not against a noxa patogena, that is an “enemy”, but against itself.
The data we have indicate that there is an individual genetic susceptibility favouring this disease; however, less frequent genetic forms, that is cases in which a specific genetic mutation may be found, have also been described. The onset of the disease is in the adult age, but rare congenital forms, that is present at birth, may also occur.
Patients usually present easy fatigability, easy muscular weakness, that is prolonged muscular activity is associated with pain or fatigue, generalized asthenia, diplopia, that is double vision, ptosis, that is eye lid lowering, dysphonia, that is alteration of the pitch of the voice (for example nasal voice), dysphagia, that is swallowing difficulties, dyspnea, that means breathing impairment.
Many patients may also have a problem in their thymus, a gland usually undergoing atrophy in adult life, that may be the site of a neoplasia or may be hypertrophic, that is too much big according to the age of the subject.
Myasthenia gravis may have several different clinical presentations, going from very mild disease to a disease harmful for the life of the subject. It is a chronic but curable disorder, but if the correct diagnosis is too much delayed, new symptoms may occur o there may be a worsening of the pre-existing clinical situation, all because of the lack of a proper therapy.
There are many possible treatments for myasthenia gravis and a good therapeutic regimen may allow patients to have a good or, sometimes, very good quality of life.
Unfortunately, because of asthenia being usually the only early symptom or because of very insidious clinical manifestations, this disease is often undiagnosed or miss-diagnosed, or it is very likely that the diagnosis is much delayed.
Therefore, it is crucial that attending doctors are very well informed about this pathology in order to address the patient to the neurologist, that is the physician in charge of the treatment and study of this pathology.