Choroid plexus tumors of childhood
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Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by a combination of symptoms that affect both the central nervous system (which controls how a person moves), and the autonomic nervous system, which controls involuntary functions such as blood pressure or digestion. MSA was formerly known as Shy-Drager syndrome, olivopontocerebellar atrophy (OCPA), or striatonigral degeneration.
The symptoms of MSA reflect the progressive loss of function and death of different types of nerve cells in the brain and spinal cord. MSA is one of a family of neurological disorders known as an atypical parkinsonian disorder. The initial symptoms can be difficult to distinguish from those of Parkinson's disease, and can include:
Symptoms tend to appear in a person's 50s and advance rapidly over the course of five to 10 years. A person with MSA will have increased difficulty with movement and eventually become bedridden. People with MSA often develop swallowing problems that can lead to pneumonia in the later stages of the disease.
There are two different types of MSA, which are categorized by the person’s most prominent symptoms when they’re evaluated by a doctor:
MSA tends to progress more rapidly than Parkinson's disease, and most people with MSA will require an aid for walking, such as a cane or walker, within a few years after symptoms begin.
Other symptoms of MSA include:
Who is more likely to get multiple system atrophy?
MSA is a rare disease, affecting potentially 15,000 to 50,000 Americans, including people of all racial groups. The cause of MSA is unknown. The vast majority of cases are sporadic, meaning they occur at random.
One distinguishing feature of MSA is the buildup of a protein called alpha-synuclein in glia, specialized cells that support nerve cells in the brain. The deposits of alpha-synuclein particularly occur in a type of glia cell that that makes myelin, a coating that helps nerve cells send electrical signals. In Parkinson’s, alpha-synuclein accumulates in the nerve cells, rather than in the glia, as seen in MSA. Because both conditions have a buildup of the same protein, MSA and Parkinson's disease are sometimes referred to as “synucleinopathies.”
Certain genetic variants have been reported to influence MSA risk, including genes related to oxidative stress, inflammation, and other genes related to Parkinson’s disease. However, a specific gene responsible for causing MSA has not yet been identified, and the genetic basis of MSA is not well understood. There is currently no definitive evidence about the effect of environmental factors (such as chemicals in food, air, or water) on a person’s risk for MSA. It is believed that a combination of genetic and environmental factors likely contributes to the development and progression of the disease.
How is multiple system atrophy diagnosed and treated?
Diagnosing MSA. Diagnosing MSA can be difficult, particularly in the early stages because many of the features are similar to those observed in Parkinson's disease. In addition to taking a person’s medical and family history and performing a neurological examination, a doctor may order tests to support the diagnosis. These tests might include:
People with MSA typically do not see their systems improve long-term when taking medicines commonly prescribed for treating Parkinson’s disease. If Parkinson’s drugs are not effective for the treating the disease, that finding can help support the diagnosis of MSA.
Treating MSA. Currently, there are no treatments to stop or slow the progression of MSA, and there is no cure. However, there are treatments to help people cope with the symptoms.
What are the latest updates on multiple system atrophy?
NINDS, part of the National Institutes of Health, and other NIH institutes support research on MSA and related disorders. NINDS supports research to develop and test better clinical measures for MSA and validate biological markers for accurate diagnosis and improved treatment, which can help ensure that clinical trials of any therapies developed for MSA are able to enroll the individuals most likely to benefit.
Other efforts include the NINDS Biospecimen Exchange for Neurological Disorders (BioSEND), which houses biological samples such as blood or spinal fluid collected through NINDS-supported studies focused on biomarkers, and the NINDS Data Management Resource (DMR), which provides researchers with tools that allow for the collection and quality assurance of clinical data in a standardized format. NINDS also participates in Accelerating Medicines Partnership® Parkinson's Disease (AMP PD)—a public-private collaboration focused on biomarker discovery to advance therapies for Parkinson’s disease and other synucleinopathies, including MSA.
Understanding Alpha-Synuclein Accumulation. Research findings indicate that abnormal alpha-synuclein accumulation in nerve cells and their supporting cells, including glia, leads to cellular dysfunction and progressive loss of nerve cell function (known as neurodegeneration). Studies suggest that the diverse forms and structures of alpha-synuclein might explain why the protein accumulates in glial cells in MSA and nerve cells in Parkinson's disease.
Studies have demonstrated that MSA-specific alpha-synuclein leads to protein clumping in animal models of MSA. Ongoing research is currently focused on finding ways to prevent and treat alpha-synuclein from building up and spreading throughout the brain.
Improving Diagnostics. MSA and other debilitating movement disorders are often hard to distinguish from one another. NINDS-funded scientists are using special brain imaging tools to develop biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can distinguish MSA from other movement disorders and track disease-specific neurodegeneration over time.
NINDS-supported scientists also are studying whether identifying specific types of abnormal protein alpha-synuclein can help differentially diagnose MSA and other neurodegenerative diseases.
The NIH-supported North American Prodromal Synucleinopathy (NAPS) Consortium is collecting clinical information, biofluids, and neuroimaging data to develop biomarkers of synucleinopathies such as MSA and to create a clinical trial-ready registry of potential participants.
Additional research on MSA can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and some other federal agencies.
How can I or my loved one help improve care for people with multiple system atrophy?
Consider participating in a clinical trial so clinicians and scientists can learn more about MSA and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with MSA at Clinicaltrials.gov. For information on studies at NIH, contact the Clinical Center Office of Patient Recruitment.
Where can I find more information about multiple system atrophy?
Information may be available from the following organizations and resources:
Phone: 800-457-4777 or 410-785-7004
Defeat MSA Alliance
National Library of Medicine
Phone: 301-496-6308 or 888-346-3656
National Organization for Rare Disorders (NORD)
The Multiple System Atrophy Coalition
Content source: https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy Accessed July 13, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.