MSA left unmanaged despite being a rare neurological disorder

Persistent gaps in rare disease classification... limitations in rehabilitation and care support systems

Average survival of 6–10 Years, rapid disability progression...“multidisciplinary management needed”

Concerns are being raised that multiple system atrophy (MSA), a fatal neurodegenerative disease characterized by faster progression and a heavier disability burden than Parkinson’s disease, still remains outside an independent rare disease management framework in Korea.

Unlike major overseas countries that operate separate registration and support systems, Korea still lacks even an accurate understanding of the patient population due to mixed disease coding and limited support measures.

At the recent “Denmark-Korea Roundtable on MSA Care” held at the Embassy of Denmark in Korea, domestic and international experts discussed the clinical characteristics of MSA, diagnostic limitations, gaps in long-term care, and the need for rare disease designation. Experts on movement disorders from both Korea and Denmark attended the event to share their management systems.

“Denmark-Korea Roundtable on MSA Care” event hosted by the Danish Embassy in Korea.

Mikael Hemniti Winther, Ambassador of Denmark to Korea, said in his welcoming remarks, “Patients with rare and intractable neurological diseases require not only access to treatment but also long-term care and social support systems. “I look forward to Denmark and Korea sharing clinical experiences and policy models to further develop patient-focused care systems.”

MSA is a progressive neurodegenerative disease in which multiple parts of the nervous system, including the basal ganglia, cerebellum, and brainstem, atrophy simultaneously. While it begins with symptoms similar to Parkinson’s disease, such as stiffness and slowed movement, as the disease progresses, autonomic nervous system abnormalities rapidly develop, including orthostatic hypotension, urinary dysfunction, sleep disorders, and respiratory difficulties.

As a result, the disease shows limited response to levodopa-based therapies commonly used for Parkinson’s disease, while symptom progression is significantly faster. According to existing data, the average survival period for MSA patients is known to be approximately 6 to 10 years after symptom onset, and it is not uncommon for patients to require walking aids or wheelchairs within a few years of diagnosis.

Professor Do-Young Kwon of the Department of Neurology at Korea University Ansan Hospital said, “Although MSA is rare enough to be classified as a rare disease, its clinical and social impact is extremely severe. MSA patients suffer not only from Parkinsonian symptoms but also cerebellar ataxia, autonomic dysfunction, and sleep disorders, and many progress to severe disability within a few years.”

Currently, Korean healthcare big data estimates the number of MSA patients at fewer than 3,000 as of 2024. However, in actual clinical practice, many cases are reportedly registered and managed under the Parkinson’s disease code (G20). Academia views this code overlap as one of the major reasons why the true patient population and disease burden are not properly reflected.

There are also significant differences in MSA management compared with other countries. The United States operates incentives for MSA drug development under the Orphan Drug Act, while Japan has established patient registration and medical expense support systems through its designated intractable disease framework. Europe likewise operates national-level management systems based on rare disease coding and research networks.

In contrast, Korea does not manage MSA within a separate rare disease framework, leading to insufficient support systems tailored to the disease’s characteristics, including long-term rehabilitation, palliative care, and sleep and respiratory management.

Rapid progression and complex symptoms…limits of treating MSA the same as Parkinson’s disease

Professor Sooyeon Yoo, Seoul Medical Center, Department of Neurology

Professor Sooyeon Yoo of the Department of Neurology at Seoul Medical Center emphasized that diagnosing MSA itself is not easy.

Professor Yoo explained, “MSA often presents symptoms very similar to Parkinson’s disease in the early stages. In some patients, characteristic autonomic nervous system abnormalities or imaging changes only appear after specific symptoms have progressed, so delayed diagnosis is common.”

In clinical practice, it reportedly takes an average of 3-4 years to reach an accurate diagnosis. The problem is that during this period, patients may remain in a treatment gap without appropriate rehabilitation or long-term care planning.

Professor Yoo said, “MSA patients experience severe declines in quality of life due to sudden fainting, falls, urinary dysfunction, and impaired temperature regulation. It places a significant psychological and financial burden not only on patients but also on their caregivers.”

She added, “Since there is currently no fundamental treatment capable of slowing disease progression, it is important to establish support systems that integrate rehabilitation, respiratory care, sleep management, and palliative care over the long term. We need a structure within the public healthcare system that ensures patients receive continuous care.”

Professor Jinyoung Youn of the Department of Neurology at Samsung Medical Center also pointed out the limitations of the current system, which manages MSA at the same level as Parkinson’s disease.

Professor Jinyoung Youn, Department of Neurology, Samsung Medical Center

“Many Parkinson’s disease patients are able to maintain daily life for long periods through medication management, MSA involves a much more rapid decline in physical function. There are currently no medications available to improve cerebellar symptoms.”

He further explained that because MSA presents with a complex combination of symptoms, a single-department approach has clear limitations. In fact, some medications may alleviate Parkinson’s symptoms but exacerbate others, such as orthostatic hypotension or constipation.

Professor Youn said, “It is common for drugs used to control one symptom to aggravate another. A multidisciplinary approach involving not only neurology but also urology, pulmonology, rehabilitation medicine, and sleep medicine is essential.”

In particular, he pointed out that a significant portion of the rehabilitation, sleep therapy, respiratory support, and long-term care services required by MSA patients are still not adequately covered under the current system.

Professor Youn noted, “MSA patients often develop the disease at relatively younger ages and tend to preserve cognitive function comparatively well. As a result, many do not fit well within existing long-term care facilities or dementia-centered caregiving systems.”

The Danish case stood in contrast to Korea’s current reality.

Professor Anne-Mette Hejl of Bispebjerg-Frederiksberg Hospital in Denmark stated, “In Denmark, neurologists, specialized nurses, physical and occupational therapists, and neuropsychology experts collaboratively manage MSA patients. Depending on the patient’s condition, services are linked to telemedicine, home care, and hospice care.”

“Denmark-Korea Roundtable on MSA Care” event hosted by the Danish Embassy in Korea.

In practice, Denmark operates a system that reduces caregiving burdens for patients and families through follow-up observations every 3 months, extended consultations, and connections to home-based services. When hospital visits become difficult, patients are transitioned to telemedicine and community-based care systems.

To date, there are no treatments available that can fundamentally slow or halt the progression of MSA itself. Consequently, experts generally agree that the importance of early diagnosis, rehabilitation, respiratory and sleep management, and long-term care systems is becoming increasingly prominent.

Meanwhile, global pharmaceutical companies continue to develop therapies aimed at suppressing MSA progression. Lundbeck’s “Amlenetug” has entered global phase 3 clinical trials, while Teva’s “Emrusolmin,” BioArctic’s “Exidavnemab,” and Alterity Therapeutics’ “ATH434” are also in clinical development stages.

Experts believe that if disease-modifying therapies become available in the future, the importance of early diagnosis and national patient registration systems will grow even further.