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Multiple system atrophy


Información en español 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


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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.[14126]

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][3][4][5] Most people with MSA survive between 6-15 years after symptoms first begin.[6]
Last updated: 12/3/2017

Symptoms Symptoms


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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.

Showing of 28 |
Medical Terms Other Names
Learn More:
HPO ID
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 0003581
Anhidrosis
Lack of sweating
Sweating dysfunction
[ more ]
0000970
Ataxia 0001251
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Babinski sign 0003487
Bradykinesia
Slow movements
Slowness of movements
[ more ]
0002067
Dysarthria
Difficulty articulating speech
0001260
Dysautonomia 0002459
Gaze-evoked nystagmus 0000640
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
Erectile dysfunction
[ more ]
0000802
Iris atrophy
Iris degeneration
0001089
Neurodegeneration 0002180
Olivopontocerebellar atrophy 0002542
Orthostatic hypotension 0001278
Parkinsonism 0001300
Postural instability 0002172
Progressive 0003676
Ptosis
Drooping upper eyelid
0000508
Rigidity
Muscle rigidity
0002063
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Sporadic 0003745
Tremor
Tremors
0001337
Urinary incontinence
Loss of bladder control
0000020
Urinary urgency
Overactive bladder
0000012
Showing of 28 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 4/1/2018
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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.

Research Research


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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: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Organizations Organizations


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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
    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? We want to hear from you.

Living With Living With


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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


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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


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News

  • National DNA Day Reddit "Ask Me Anything" (AMA) Series
    April 11, 2018

Related Diseases Related Diseases


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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


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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


  1. Multiple System Atrophy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Multiple-System-Atrophy#3145_3.
  2. Diedrich A & Robertson D. Multiple System Atrophy. Medscape Reference. 2017; http://emedicine.medscape.com/article/1154583-overview.
  3. Multiple system atrophy. MedlinePlus. November 2, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000757.htm.
  4. Multiple System Atrophy. National Organization for Rare Diseases (NORD). 2013; https://rarediseases.org/rare-diseases/multiple-system-atrophy/.
  5. Factor SA & Esper CD. Multiple system atrophy: Clinical features and diagnosis. UpToDate. March 02, 2017; https://www.uptodate.com/contents/multiple-system-atrophy-clinical-features-and-diagnosis.
  6. Factor SA & Esper CD. Multiple system atrophy: Prognosis and treatment. UpToDate. May 09, 2017; https://www.uptodate.com/contents/multiple-system-atrophy-prognosis-and-treatment.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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