Omar Sinno, MD, Medical Lead of Rare Disease at UCB, discusses why seeing the right specialist is crucial for a quick myasthenia gravis (MG) diagnosis.

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles, especially in the face that make it difficult to control eye movement, facial expressions, chewing, talking, and swallowing. The condition results from a defect in the transmission of nerve impulses to muscles, due to the presence of antibodies against acetylcholine receptors or other neuromuscular endplate receptors. Treatment is limited to managing symptoms and there are no targeted therapies or cures currently available for this rare condition. 

As Dr. Sinno explains, it takes MG patients, on average, two years to be properly diagnosed. However, one reason it may take this long or longer is because of the type of physician a patient sees first. For instance, if a patient goes to a primary care physician first and does not present with the typical signs of MG (i.e. drooping eyelids, slurring speech, etc), it may be more difficult for that physician (compared to a neurologist, for example) to think of MG as a potential diagnosis. Therefore, if it is possible, Dr. Sinno urges individuals who think they may have this condition to reach out to a neurologist or neuromuscular specialist as they are more likely to think of MG as a diagnosis and be able to perform the necessary diagnostic tests (e.g., testing for antibodies against acetylcholine receptors or other neuromuscular endplate receptors)

To learn more about myasthenia gravis, visit our Myasthenia Gravis Learning Center here.