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The Mystery of Multiple System Atrophy: Why is It So Difficult to Diagnose?
Multiple system atrophy (MSA) is a rare neurodegenerative disease characterized by autonomic dysfunction including tremors, slow movements, muscle rigidity, postural instability, and movement disorders. The disease is caused by the progressive degeneration of neurons in certain areas of the brain, including the basal ganglia, inferior olive, and cerebellum.
Many people affected by MSA experience dysfunction of the autonomic nervous system, which often manifests as orthostatic hypotension, impotence, decreased sweating, dry mouth, and urinary retention or incontinence.
According to data, about 55% of MSA cases occur in men, and patients usually first experience symptoms between the ages of 50 and 60. The diagnosis of MSA is further complicated by the fact that symptoms of MSA often mimic those of Parkinson's disease, but the disease is less responsive to the dopamine agonists used to treat Parkinson's disease. Currently, only about 9% of MSA patients experience true "medication-induced tremor."
Clinical manifestations and progression
MSA is characterized by autonomic dysfunction and at least one motor symptom. The most common initial symptom was "retardation-rigidity syndrome", observed in 62% of first visits. As the disease progresses, symptoms can be divided into three major categories: movement disorders, cardiocerebral disorders, and autonomic dysfunction.
“Movement disorders include slow and stiff movements, and handwriting becomes small and curled. Heart and brain disorders lead to coordination difficulties and unstable balance, while autonomic dysfunction affects many aspects of automatic body functions, such as low blood pressure. , urinary incontinence and constipation, etc.
Because the clinical manifestations of MSA can vary greatly, many patients may experience multiple mixed symptoms of the disease before being diagnosed, which ultimately leads to delayed diagnosis or even misdiagnosis as other neurodegenerative diseases such as Parkinson's disease.
Diagnostic Challenges
A diagnosis of MSA is usually based on a detailed medical examination, family history, imaging studies, and laboratory tests. Although MRI and CT examinations may show atrophy of the cerebellum and pons in some patients, these imaging changes are not always obvious, especially in the early stages of the disease. Many physicians are under-recognized for MSA, resulting in cases being evaluated that are often confused with symptoms of other diseases.
Pathological characteristics and causes
Pathologically, the main features of MSA are widespread glial cytoplasmic inclusions (GCIs) and so-called Papp-Lantos bodies, which are mainly composed of α-synuclein. These biochemical signatures vary significantly among different types of neurodegenerative diseases.
Although some studies have found that the loss of certain genes may be associated with the development of MSA, the validity of these results among different ethnic groups remains controversial, which adds more challenges to the diagnosis of MSA."MSA pathology shows accumulation of alpha-synuclein in glial cells, whereas other MSA diseases show accumulation of alpha-synuclein in neurons."
Treatment and Prognosis
Currently, there is still no fundamental solution for the treatment of MSA. Continuous care and professional support are important components to ensure patients' quality of life. Patients often have many needs, including medication, occupational and speech rehabilitation, etc. Although some patients may respond to dopamine drugs to a certain extent, overall the effectiveness of this type of treatment is not ideal.
According to research, the average life expectancy of MSA patients is about 6 to 10 years after the onset of symptoms. As the disease progresses, approximately 60% of patients become wheelchair-dependent within five years of the onset of motor symptoms, and few survive past 12 years.
"Causes of death in MSA are similar to common complications, such as infections and acute illnesses."
Ultimately, for patients and their families, facing the challenges of MSA and even the unknowns of pathological changes is undoubtedly a difficult road. In understanding the mystery and complexity of this disease, can readers find more appropriate ways to improve diagnosis rates and patients' quality of life?
