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The incubation period of MSA: Why are its first signs often so difficult to detect?
Multiple system atrophy (MSA) is a rare neurodegenerative disease characterized by tremors, slow movements, muscle rigidity, and postural instability (collectively known as Parkinsonism) as well as autonomic dysfunction and cerebellar ataxia. Disharmony. The disease occurs due to the gradual degeneration of neurons in multiple parts of the brain, especially the basal ganglia, inferior olive, and cerebellum. The disorder was first described in 1960 by Milton Shy and Glen Drager, and was then called Shy-Drager syndrome.
“The first signs of MSA are often difficult to recognize because the initial symptoms are similar to those of other common illnesses.”
People affected by MSA often experience dysfunction of the autonomic nervous system, which often manifests as orthostatic hypotension, impotence, loss of sweat secretion, dry mouth, and urinary retention. Paralysis of the vocal cords is one of the important and sometimes initial clinical manifestations of the disease. Studies have shown that the alpha-synaptophysin protein in MSA patients may cause the disease. Additionally, approximately 55% of MSA cases occur in men, and symptoms typically begin between the ages of 50 and 60.
Initial Signs and Symptoms
The initial presentation of MSA is often vague, with the most common first sign being bradykinesia, which is seen in 62% of patients during their first visit to the doctor. As the disease progresses, symptoms worsen and can be divided into three main groups:
- Parkinson's symptoms - slowed movements and stiffness, handwriting becomes small and illegible.
- Cerebellar dysfunction - difficulty coordinating movements and balance.
- Autonomic nervous system dysfunction - including orthostatic hypotension, urinary incontinence, impotence, etc.
“Many patients experience falls within the first year.”
The presence of these symptoms can often be confusing, especially when some of the symptoms of MSA are similar to those of other diseases, such as Parkinson's disease. However, a more dramatic hypotensive response, muscle rigidity, and difficulty adapting to exercise are unique hallmarks of MSA. Studies show that while some MSA patients may respond to dopamine drugs, overall they are far less responsive to them than Parkinson's disease patients.
Genetics and Pathophysiology
Research on MSA has also shown that the loss of genes in specific genetic regions may be associated with the development of the disease. One study found that deletions in the SHC2 gene were associated with MSA in Japanese patients, but follow-up studies of patients in the United States did not replicate this finding. In addition, pathological features of MSA include the presence of Papp-Lantos bodies in the motor and balance centers of the brain, a typical histopathological hallmark. The main fiber component contained in the corpuscle is α-synaptophysin. These pathological changes are usually not obvious in the early stages of the disease process, which also makes early diagnosis difficult.
Diagnosis is difficult
Diagnosing MSA often requires a careful evaluation by a doctor, including examination of clinical symptoms, imaging examinations, and a variety of laboratory tests. MRI and CT scans may show a decrease in the volume of the cerebellum and pons; however, these changes are often absent in the early stages of the disease, making the initial diagnosis particularly difficult.
"Early diagnosis of MSA is an important factor in improving the success rate of treatment."
In addition to difficult-to-recognize initial symptoms, people with MSA often experience rapid deterioration in the years following diagnosis. Approximately 60% of patients require a wheelchair within five years of onset, while the average life expectancy for most patients is six to 10 years after symptom onset. As the disease progresses, the patient's quality of life is severely affected.
Thinking about the future
After understanding the diagnostic challenges and potential genetic factors of MSA, we can't help but think: In the face of this difficult-to-detect disease, how can society strengthen support and care for patients and their families to improve their quality of life?
