Multiple system atrophy (MSA) is a rare, neurodegenerative disease characterized by poor control of movement (motor impairment) and autonomic nervous system dysfunction. MSA is an adult onset disease that progresses rapidly leading to severe disability. The underlying pathology involves neuronal loss and the abnormal accumulation of alpha-synuclein protein in oligodendrocytes and neurons in the brain and spinal cord.
Symptoms Of Multiple System Atrophy (MSA)
MSA can present with a variable combination of parkinsonian, cerebellar, and autonomic symptoms. Parkinsonian features include tremor, rigidity, shuffling gate and slow movement. Cerebellar signs involve lack of coordinated muscle movement leading to problems with balance and speech. Autonomic symptoms involve problems controlling blood pressure during posture changes, urinary incontinence and erectile dysfunction.
The most common initial symptoms are parkinsonian features like tremors or lack of coordination. Some people may first notice problems with bladder or bowel function. Symptoms tend to progress rapidly. Unlike Parkinson's disease, MSA does not respond well to levodopa treatment. Within 5-10 years of onset, most people with MSA become disabled and require 24/7 care. Life expectancy is usually 6-10 years from initial onset.
Multiple System Atrophy (MSA) Causes and Risk Factors
The cause of MSA is unknown but is thought to involve both genetic and environmental factors. Inherited genetic changes may increase the risk of developing the abnormal protein accumulation that characterizes MSA. Exposure to neurotoxins or other environmental factors may also contribute. Advanced age is the strongest risk factor as MSA typically affects adults in their 50s-70s. Men are nearly twice as likely to develop MSA compared to women.
Diagnosis Of MSA
The diagnosis of MSA can be challenging as symptoms overlap with other conditions like Parkinson's disease. A careful neurological exam focusing on signs of parkinsonism, cerebellar dysfunction and autonomic failure is needed. Further tests like MRI of the brain may show atrophy in regions affected by MSA. Tests of autonomic nervous system function help evaluate problems like orthostatic hypotension. Additional supportive tests include DaTscan which shows reduced dopamine transporter binding in the striatum or lab tests of cerebrospinal fluid. The diagnosis requires exclusion of other disorders and demonstration of suggestive clinical features and test results. MSA is classified into MSA-P (predominant parkinsonism) and MSA-C (predominant cerebellar ataxia) subtypes.
Disease Management And Treatment
Unfortunately, there is no cure for MSA and treatment is aimed at alleviating specific symptoms. Drugs for Parkinson's symptoms like levodopa are of limited benefit. Other medications may help control othostatic hypotension, urinary symptoms and erectile dysfunction associated with autonomic involvement. Physiotherapy and occupational therapy help maintain functional mobility, balance and activities of daily living. Good supportive care including nutritional support is important as disability progresses. Experimental gene therapies and stem cell based approaches are being investigated but larger controlled trials are still needed to establish effectiveness for MSA. Palliative care and coping strategies help manage disability and quality of life issues in advanced disease stages.
Prognosis And Outlook
MSA has a poor prognosis with high morbidity and mortality rates. Nearly all people with MSA become fully dependent within 5-10 years of onset. The average survival time is 6-10 years from initial diagnosis. However, the prognosis and disease course can vary significantly among individuals. Development of newer symptomatic and disease modifying treatments that slow disease progression present hope for better management and outcomes in the future. Till then, support from family, healthcare teams and patient advocacy groups remain important pillars of support for people living with MSA.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it