Multiple system atrophy

Title

Other Names:

MSA; Shy-Dragger syndrome (formerly)

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases; RDCRN See More

Summary Summary

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death.^[1] The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinson’s disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinson’s disease are sometimes referred to as synucleinopathies. ^[2] There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.^[1]^[3]

Last updated: 11/5/2015

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Cognitive impairment	Occasional (present in 5%-29% of cases)
Adult onset	-
Anhidrosis	-
Ataxia	-
Autosomal dominant inheritance	-
Autosomal recessive inheritance	-
Babinski sign	-
Bradykinesia	-
Dysarthria	-
Dysautonomia	-
Gaze-evoked nystagmus	-
Hyperreflexia	-
Hypohidrosis	-
Impotence	-
Iris atrophy	-
Neurodegeneration	-
Olivopontocerebellar atrophy	-
Orthostatic hypotension	-
Parkinsonism	-
Phenotypic variability	-
Postural instability	-
Progressive	-
Ptosis	-
Rigidity	-
Skeletal muscle atrophy	-
Sporadic	-
Tremor	-
Urinary incontinence	-
Urinary urgency	-

Last updated: 6/1/2017

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are studying or have studied Multiple system atrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

The Autonomic Rare Diseases Clinical Research Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with many types of autonomic disorders through research. The Autonomic Rare Diseases Clinical Research Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

CurePSP
404 5th Avenue, Third Floor
New York, NY 10001
Toll-free: 800-457-4777
Telephone: 410-785-7004
Fax: 410-785-7009
E-mail: info@curepsp.org
Website: http://www.psp.org/
Dysautonomia Information Network
PO Box 2642
Buffalo, NY 14240
E-mail: staff@dinet.org
Website: http://www.dinet.org/
Dysautonomia International
67 Woodlawn Ave.
East Moriches, NY 11940
E-mail: info@DysautonomiaInternational.org
Website: http://www.dysautonomiainternational.org/
Multiple System Atrophy Trust (MSA Trust)
51 St Olav's Court
City Business Centre
Lower Road
London, SE1 7SJ United Kingdom
Telephone: 0333 323 4591
E-mail: support@msatrust.org.uk
Website: http://www.msatrust.org.uk/
National Dysautonomia Research Foundation
P.O. Box 301
Red Wing, MN 55066-0301
Telephone: 651-267-0525
Fax: 651-267-0524
E-mail: ndrf@ndrf.org
Website: http://www.ndrf.org
The Multiple System Atrophy Coalition
9935-D Rea Road
Suite 212
Charlotte, NC 28277
Telephone: 866-737-5999
Fax: 512-251-3315
Website: http://www.multiple-system-atrophy.org/

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Multiple system atrophy. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple system atrophy. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

NCATS Co-Sponsored Conferences

Third NIH Workshop on Gaucher Disease and Parkinsonism Thursday, April 8, 2010 - Friday, April 9, 2010
Location: NIH- the Cloister, Bethesda, Maryland
Description: Workshop goals were to (1) determine the appropriate human, animal, or cell-based models to better understand this correlation; (2) explore the mechanisms and/or pathways involved; and (3) establish international collaborations to enhance progress in the field and to make recommendations for future study.

Contact: Dr. Ellen Sidransky301-451-0901sidranse@irp.nimh.nih.gov

Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
- Agenda ( - 42KB)
- Report ( - 35KB)

Related Diseases Related Diseases

The following diseases are related to Multiple system atrophy. If you have a question about any of these diseases, you can contact GARD.

Primary orthostatic hypotension

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

If someone has MSA, is it possible that they do things with out realizing what they are doing is wrong? Does this disease have any impact on them being unable to differ right from wrong. I'm asking this because someone I know has been recently diagnosed with MSA and is in the final stage, he has done some pretty unfavorable things in the past and people are trying to justify this disease played a factor in his mental stability at the time. Is this possible? See answer

Have a question? Contact a GARD Information Specialist.

References References

Multiple System Atrophy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). December 18, 2014; https://www.ninds.nih.gov/Disorders/All-Disorders/Multiple-System-Atrophy-Information-Page. Accessed 11/5/2015.
Diedrich A & Robertson D. Multiple System Atrophy. Medscape Reference. May 8, 2015; http://emedicine.medscape.com/article/1154583-overview. Accessed 11/5/2015.
Multiple system atrophy. MedlinePlus. November 2, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000757.htm. Accessed 11/5/2015.

Do you know of a review article? Send us your suggestions.