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Uncontrolled Disease Common in Patients Grappling With Myasthenia Gravis


A real-world study of 5 European countries shows frequent misdiagnoses/delays in diagnosis, acute hospitalizations, and quality-of-life impairments.

Many patients who have myasthenia gravis continue to experience symptoms and worsening of disease severity, which greatly affects their quality of life, according to a real-world observational study published in Orphanet Journal of Rare Diseases.1

Real-world studies are important to better understand the true nature of a disease because they complement the evidence on efficacy and safety obtained through randomized clinical trials, the authors wrote. They are particularly useful in rare diseases where patient populations for clinical trials are relatively small.

In the European Union, a rare disease is defined as one that affects no more than 1 in 2000 people.2

In this real-world study, more than 60% of patients with myasthenia gravis receiving conventional care remained moderately to severely symptomatic. Further, more than one-third required acute treatment, predominately for episodic disease exacerbations or myasthenic crises, highlighting the lack of disease control with current treatment regimens. A myasthenic crisis is characterized by worsening of muscle weakness, leading to respiratory failure.

“These data suggest there is a significant need for improved treatment options,” the authors said.

In addition, patients need a correct and expedited diagnosis. Participants in the new study waited nearly 11 months for an accurate diagnosis after the onset of symptoms.

The primary objective of the present study was to explore real-world insights into the management of myasthenia gravis from 5 European counties. Further, the investigators sought to confirm previous findings from the United States that people living with myasthenia gravis have chronically uncontrolled disease.

Myasthenia gravis is a chronic autoimmune disorder in which antibodies destroy neuromuscular connections, causing fluctuating but profound muscle weakness and fatigue. Common symptoms include drooping eyelids, double vision, weakness of arm or legs muscles, and problems with speaking, chewing, and swallowing. The disease can affect people of any age, but it is more frequently seen in younger women and older men.

A “point-in-time” survey was conducted in the United Kingdom from March to July 2020 and in France, Germany, Italy, and Spain from June to September 2020. A cohort of 144 physicians who treat myasthenia gravis (neurology, geriatrics, and primary care) completed online clinical data forms on 778 participants with a mean age of 54.0 years; 52.2% were female patients.

Patients (and caregivers) for whom a physician had submitted a patient record form were invited to provide their perspectives on quality of life, work productivity, and activity impairments by completing a questionnaire. The investigators received 226 patient- and 28 caregiver-completed forms. 

The data showed these findings:

  • Mean patient age at the onset of symptoms was 47.7 years; the overall mean age at the time of survey completion was 54.0 years.
  • The mean time from symptom onset to diagnosis was 332.4 days (10.97 months)
  • Although 96% of patients received treatment, the mean number of myasthenic-related symptoms per patient remained at 5 from the time of diagnosis to the time of the survey
  • Despite current treatment, two-thirds of participants remained moderately to severely symptomatic
  • Antidepressants/other psychological medications were the most reported comedications in Spain, Italy, and France, and the second most reported comedication in the United Kingdom
  • Approximately a quarter of patients were hospitalized for acute (rescue) treatment of myasthenia gravis during the previous 12 months, with half admitted via the emergency department and 11.2 % admitted to the intensive care unit
  • Patient-reported data revealed worktime missed, work impairments, and activity impairment of 16% to 42%, suggesting a “moderate reduction on patients’ quality of life”

Importantly, 24.3% of patients across all countries had received an incorrect diagnosis. Chronic fatigue syndrome was the most common misdiagnosis in 4 of the 5 countries.

Diagnosing physicians were neurologists for most (80.8%) patients, but this varied considerably between countries. Notably, almost 40% of patients in Germany and close to 20% in Spain and in France received their diagnosis from a clinician who was not a neurologist, including general practitioners, ophthalmologists, internists, and geriatricians.

Overall, the European survey confirmed findings from the United States that a significant number of people living with myasthenia gravis have chronically uncontrolled disease, the authors concluded. Further, the study highlighted the need for additional education of providers, other than neurologists, on identifying signs and symptoms of myasthenia gravis, expediting referrals to a specialist, they added.

“Even when their myasthenia gravis is diagnosed in a timely manner, many patients continue to experience symptoms and worsening of disease severity,” they said. “There remains a need for additional therapies to address the unmet need in patients with myasthenia gravis.”


1. Milada M, Bozorg A, DeCourcy J, et al. Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey. Orphanet J Rare Dis. Published online June 29,2023. doi:10.1186/s13023-023-02727-0

2. Rare diseases. European Commission. Accessed July 13, 2023. https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en#:~:text=EU%20research%20on%20rare%20diseases,million%20people%20in%20the%20EU

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