Female patients may receive a more delayed diagnosis of myasthenia gravis (MG) and other neurologic disorders than males, according to a poster presented at the National Organization for Rare Disorders 2022 Rare Diseases and Orphan Products Breakthrough Summit.

This descriptive study included data from 3104 patients that received a diagnosis of a neurologic disease considered rare, such as MG, amyotrophic lateral sclerosis (ALS), or progressive supranuclear palsy (PSP).

Male patients accounted for 57% of the cohort. The mean age was 62.4 years for male patients and 58.3 years for female patients. MG was the most common diagnosis, with 1234 patients who suffered from it, followed by ALS and PSP present in 978 and 892 participants, respectively.

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Importantly, women experienced an 11.7-month delay in the diagnosis after the beginning of symptoms, on average, while men waited over 1 month less (10.3 months). The researchers observed this pattern among all 3 disease entities.

“A delay at diagnosis can affect the emotional and physical welfare of these patients, and cause significant economic and clinical burden on the healthcare system,” the authors wrote.

Across the entire cohort, 5%, 32%, and 63% were identified as having severe, moderate, and mild disease, respectively. Among the patients who had a severe disease presentation at the moment of the diagnosis, the majority (55%) were female patients.

More specifically, 59% of PSP patients who had severe disease at the time of diagnosis were female, and this was the case for 63% of women receiving a MG diagnosis.

Although ALS was the only entity in which male patients had a higher rate of severe disease diagnosis, proportionally, there are still more women in the severe subgroup compared to the moderate and mild categories.

Sex distribution was overall similar in all 3 diseases. Women were only barely predominant among the MG group, with 620 vs 614 male patients. Conversely, men accounted for 63% and 61% of the individuals with ALS and PSP, respectively.

“Further research is required to understand the reasons for differences in disease severity and delayed diagnosis between male and female patients with ALS, MG, and PSP,” the authors wrote.


Libby S, Mellor J, Taylor Y, Simons A, Gibson G. Physician reported disease severity and diagnostic delays in patients with rare neurological diseases: differences by sex from a real-world survey across Europe and the United States of America. Poster presented at: National Organization for Rare Disorders 2022 Rare Diseases and Orphan Products Breakthrough Summit; October 16-18, 2022; Washington, DC.