More than 60% of European Rare Neurological Disease Patients Undiagnosed
World Rare Disease Day: Shining a Light on the Challenges and Advancements
Table of Contents
February 28, 2025
On February 28, World Rare Disease Day is commemorated, a day dedicated to raising awareness about the situation of people affected by rare diseases, as well as promoting research and development of treatments. In the European Union, a rare disease is one that affects less than 5 people per 10,000 inhabitants. However, although each of these diseases has a low prevalence, together they affect millions of people. It is estimated that up to 6% of the world’s population suffers from a rare disease and that, only in the European Union, 36 million people live with one of these pathologies. Every year, half a million Europeans receive a new diagnosis.
It is estimated that up to 6% of the world population suffers a rare disease
Rare diseases make up a very heterogeneous group of pathologies that can affect any organ system. In general, they are serious or very serious diseases in 65% of cases, chronic in 85%, and, in many occasions, degenerative and genetic in origin (around 80%). In addition, in about 50% of cases, they compromise the patient’s life expectancy.
More than 35% of those affected have the first symptoms in childhood or adolescence. However, the prevalence is greater in adults due to the high mortality of some of these diseases. In fact, rare diseases are responsible for 35% of deaths in children under one year and more than 10% of deaths in children between 1 and 15 years.
Impact on Spain
According to estimates by The Spanish Neurology Society (SEN), between 6% and 8% of the Spanish population could be affected by a rare disease at some point in their life. Currently, about 3 million people in Spain suffer from these pathologies, many of which lack a certain diagnosis and effective treatment.
“At present, the cure for 95% of rare diseases is not known. In addition, the average time to obtain a diagnosis can exceed 4 years and, in 20% of cases, this process can last more than 10 ”
Ana Maria Malal Domínguez Mayoral, Coordinator of the Neurogenetic Study Group and Rare Diseases of the SEN
Ana María Domínguez Mayoral, Coordinator of the Neurogenetic Study Group and Rare Diseases of the SEN emphasizes that “at present, the cure for 95% of rare diseases is not known. In addition, the average time to obtain a diagnosis can exceed 4 years and, in 20% of cases, this process can last more than 10.” The specialist also underlines the impact of these diseases on the quality of life of the patients, pointing out that “80% of those affected in Spain have some degree of dependence and more than 50% require support in their daily lives.”
Rare Neurological Diseases
The World Health Organization (WHO) has identified more than 9,000 rare diseases, of which about 50% correspond to neurological diseases and 20% to rare neuromuscular diseases. In addition, many of rare non-neurological diseases may have serious neurological manifestations. For example, it is estimated that 90% of rare pediatric diseases have significant neurological symptoms.
The World Health Organization (WHO) has identified more than 9,000 rare diseases, of which about 50% correspond to neurological diseases and 20% to rare neuromuscular diseases
Rare neurological diseases affect both the central and peripheral nervous system and can present a wide variety of symptoms, including mobility problems, muscle weakness, loss of cognitive functions, epileptic crises, sensory alterations or speech disorders. “These are uncommon, but highly disabled diseases and, in many cases, mortal,” explains Domínguez. In fact, according to the atlas of mortality due to rare diseases in Spain, more than 40% of deaths due to rare diseases in the country are due to neurological pathologies.
Perspectives of the Future
One of the main challenges in approaching rare diseases is the delay in their diagnosis. The European Reference Network on Rare Neurological Diseases (ERN-RND) estimates that more than 60% of Europeans with a rare neurological disease have not yet been diagnosed. In this context, SEN insists on the need to create specialized reference centers and improve the training of health professionals. “Ignorance about many of these diseases means that diagnosis can be delayed in excess, which negatively impacts the quality of life of patients,” says Domínguez.
The European Reference Network on Rare Neurological Diseases (ERN-RND) estimates that more than 60% of Europeans with a rare neurological disease have not yet been diagnosed
Despite these obstacles, advances in genetic research have allowed to identify about 50% of the genetic alterations responsible for these pathologies, and around 200 new genetic disorders are discovered every year. “Facilitate access to specialized centers and genetic tests could significantly improve diagnostic times and contribute to the investigation of new treatments, so necessary when we talk about rare diseases,” the specialist concludes.
World Day for Rare Diseases reminds us of the urgency of improving the diagnosis, treatment, and support of patients and their families. With a joint effort of the medical community, researchers, and health authorities, it is possible to move towards a better quality of life for people affected by these diseases.
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World Rare Disease Day: Shining a Light on the Challenges and Advancements
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key Questions and Answers
What is World Rare Disease Day and Why is it Vital?
Q: What does World Rare Disease Day commemorate and why is it significant?
A: World Rare Disease Day, commemorated on February 28, is dedicated to raising awareness about the challenges faced by those affected by rare diseases and promoting research and development of treatments. Although each rare disease affects a small number of people, collectively they impact millions across the globe. An estimated 6% of the world’s population suffers from a rare disease, translating to 36 million people in the European Union alone. The day underscores the importance of advocacy, research support, and improving healthcare access for this community.
Definition and Prevalence of Rare Diseases
Q: How are rare diseases defined and what is their prevalence globally?
A: Rare diseases are defined as those affecting less than 5 people per 10,000 inhabitants in the European Union. Despite their low individual prevalence,together they comprise a significant health concern,affecting millions worldwide. Roughly 6% of the global population lives with a rare disease, creating challenges, yet highlighting the need for illumination on the issue. These diseases ofen present severe symptoms, including chronic and degenerative conditions impacting life expectancy in about 50% of cases Rare Disease Day Explanation.
Impact of Rare Diseases on Spain
Q: What is the impact of rare diseases on the Spanish population?
A: In Spain, estimates from The Spanish Neurology Society (SEN) suggest that 6% to 8% of the population could be affected by a rare disease at some point. currently, about 3 million individuals face these conditions, many without a confirmed diagnosis or effective treatment. According to Ana María Domínguez Mayoral of the SEN, the cure for 95% of rare diseases is unknown, and diagnosis can take over 4 years, substantially affecting quality of life and necessitating daily support for over 50% of those affected Rare Disease Advocacy.
Challenges in Diagnosis and Treatment
Q: what are the challenges in diagnosing and treating rare diseases, especially neurological ones?
A: Diagnosis delays are a major challenge for rare diseases, with european Reference Network on Rare Neurological Diseases (ERN-RND) estimating more than 60% of Europeans with a rare neurological disease remain undiagnosed. The lack of awareness and specialist resources contributes to diagnosis exceeding 4 years, with 20% taking over 10 years. Advances in genetic research help identify about 50% of genetic alterations related to these diseases,but creating specialized centers and enhancing healthcare training are crucial for improving diagnostic times and treatment options.
Advancements and Future Perspectives
Q: What advancements are being made in the field of rare diseases, and what does the future hold?
A: Genetic research has been instrumental in identifying causative genetic alterations of rare diseases, with approximately 200 new genetic disorders being discovered annually. Facilitating access to specialist centers and genetic testing can markedly enhance diagnosis and contribute to future therapeutic advancements. Continued efforts by the medical community, researchers, and health authorities aim to improve quality of life through better diagnosis, treatment, and patient support.
Conclusion
Q: How can we contribute to the advancement of rare disease awareness and research?
A: By supporting World Rare Disease Day and engaging with initiatives from organizations like Rare Diseases International and the European Reference Networks, we can contribute to increased awareness and understanding. Advocacy, research funding, and supporting patients and their families are essential to drive forward improvements in rare disease diagnosis and treatment pathways.
- Rare Disease Research Developments
- Success Stories in Rare Disease Treatments
- Role of Genetic Testing in rare Disease Diagnosis
For more insight into rare diseases and ongoing efforts to address them globally, you are encouraged to delve into resources from reputable organizations and healthcare professionals dedicated to this cause.
This Q&A has been enriched with insights from reliable sources and statistics to provide a comprehensive viewpoint on rare diseases and the significant role of World Rare Disease Day. For further reading, consider visiting Rare Disease Day and related health-focused articles.