Multiple system atrophy

Información en español Title

Other Names:

MSA; Shy-Drager syndrome (formerly)

Categories:

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

This disease is grouped under:

Primary orthostatic hypotension

Summary Summary

Multiple system atrophy (MSA) causes the progressive loss of nerve cells in the brain (a neurodegenerative disease). MSA affects several areas of the brain, including the cerebellum, which is involved in controlling movement and some emotions, as well as certain types of learning and memory, and the autonomic nervous system, which controls your body’s automatic, or regulating functions, such as blood pressure, digestion and temperature.The initial symptoms of MSA start around age 50, and are very similar to the initial symptoms of Parkinson’s disease. These symptoms may include slowness of movement, tremor, or rigidity (stiffness), clumsiness or coordination problems, difficulties with speech, orthostatic hypotension (a condition in which blood pressure drops when rising from a seated or lying down position), and bladder control problems. Other symptoms of MSA may include muscle contractures, abnormal posture, bending of the neck, involuntary sighing, trouble sleeping and emotional problems. As MSA progresses, breathing problems while sleeping (sleep apnea) and irregular heart rhythms may develop.^[1]^[2]

MSA may be divided in 2 subtypes, depending on the main symptoms at the time when a person with MSA is evaluated:^[2]

the parkinsonian type (MSA-P), which have Parkinson disease-like symptoms, such as moving slowly, stiffness, and tremor, along with problems of balance, coordination, and autonomic nervous system dysfunction
the cerebellar type (MSA-C), with primary symptoms of cerebellar ataxia (cerebellum is the part of the brain that is responsible for movement coordination) such as problems with balance and coordination, difficulty swallowing and speaking, and abnormal eye movements

The cause of MSA is unknown, although environmental toxins, trauma, and genetic factors may be involved. Most cases occur at random, without any other cases in the family. Diagnosis of MSA is suggested by a combination of symptoms, physical examination, lab test results, and response to certain medications. However, no laboratory or imaging studies are able to confirm the diagnosis.^[3]

Treatment may include medication, physical, occupational, and speech therapy, and nutritional support. There is no cure for MSA, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.^[1]^[4]^[5]^[6] Most people with MSA survive between 6-15 years after symptoms first begin.^[7]

Last updated: 12/3/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Abnormal brain FDG positron emission tomography		0012658
Abnormal pyramidal sign		0007256
Abnormal rapid eye movement sleep		0002494
Autonomic bladder dysfunction		0005341
Autonomic erectile dysfunction		0008652
Axial dystonia		0002530
Bradykinesia	Slow movements Slowness of movements [ more ]	0002067
Camptocormia		0100595
Central sleep apnea		0010536
Constipation		0002019
Dysarthria	Difficulty articulating speech	0001260
Female anorgasmia		0030015
Frequent falls		0002359
Gait ataxia	Inability to coordinate movements when walking	0002066
Gaze-evoked nystagmus		0000640
Orofacial dyskinesia		0002310
Orthostatic hypotension due to autonomic dysfunction		0004926
Orthostatic syncope		0012670
Parkinsonism		0001300
Postural instability	Balance impairment	0002172
Postural tremor		0002174
Progressive cerebellar ataxia		0002073
Raynaud phenomenon		0030880
Resting tremor	Tremor at rest	0002322
Rigidity	Muscle rigidity	0002063
Stridor		0010307
5%-29% of people have these symptoms
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Percent of people who have these symptoms is not available through HPO
Adult onset	Symptoms begin in adulthood	0003581
Anhidrosis	Lack of sweating Sweating dysfunction [ more ]	0000970
Ataxia		0001251
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Babinski sign		0003487
Hyperreflexia	Increased reflexes	0001347
Hypohidrosis	Decreased ability to sweat Decreased sweating Sweating, decreased [ more ]	0000966
Impotence	Difficulty getting a full erection Difficulty getting an erection [ more ]	0000802
Iris atrophy	Iris degeneration	0001089
Neurodegeneration	Ongoing loss of nerve cells	0002180
Olivopontocerebellar atrophy		0002542
Orthostatic hypotension	Decrease in blood pressure upon standing up	0001278
Progressive	Worsens with time	0003676
Ptosis	Drooping upper eyelid	0000508
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Sporadic	No previous family history	0003745
Tremor		0001337
Urinary incontinence	Loss of bladder control	0000020
Urinary urgency	Overactive bladder	0000012

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis of MSA-p includes Parkinson's disease and other atypical parkinsonian disorders (progressive supranuclear palsy, corticobasal syndrome). Differential diagnosis of MSA-c includes dominantly inherited spinocerebellar ataxias (SCAs 1, 2, 3, 6, and 7), fragile X-associated tremor/ataxia syndrome (FXTAS) and mitochondriopathies (POLG1 gene mutations). Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnosis of MSA-p includes Parkinson's disease and other atypical parkinsonian disorders (progressive supranuclear palsy, corticobasal syndrome). Differential diagnosis of MSA-c includes dominantly inherited spinocerebellar ataxias (SCAs 1, 2, 3, 6, and 7), fragile X-associated tremor/ataxia syndrome (FXTAS) and mitochondriopathies (POLG1 gene mutations).

Visit the Orphanet disease page for more information.

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 related to 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: RDCRN Autonomic Disorders Consortium Contact Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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
1216 Broadway, 2nd Floor
New York, NY 10001
Toll-free: 1-800-457-4777
Telephone: +1-347-294-2873 (CURE)
Fax: +1-410-785-7009
E-mail: info@curepsp.org
Website: https://www.psp.org/
Defeat MSA Alliance
29924 Jefferson Avenue
Saint Clair Shores, MI 48082
Telephone: 855-542-5672
E-mail: director@defeatmsa.org , defeatmsa@gmail.com
Website: https://defeatmsa.org/
Dysautonomia Information Network
PO Box 10057
Swanzey, NH 03446, NH 03446
E-mail: webmaster@dinet.org
Website: https://www.dinet.org/
Dysautonomia International
P.O. Box 596
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: https://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 (Support Hotline)
Fax: 512-251-3315
Website: https://www.multiplesystematrophy.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? We want to hear from you.

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.

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

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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