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Disease Profile
Multiple system atrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Adult
ICD-10
G23.2 G23.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MSA; Shy-Drager syndrome (formerly)
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases;
Summary
Multiple system atrophy (MSA) causes the progressive loss of nerve
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
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]
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.
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 |
0002530 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Camptocormia | 0100595 | |
Central sleep apnea | 0010536 | |
Constipation | 0002019 | |
Difficulty articulating speech
|
0001260 | |
Female anorgasmia | 0030015 | |
Frequent falls | 0002359 | |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Gaze-evoked |
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 | |
0000006 | ||
0000007 | ||
Babinski sign | 0003487 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
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 |
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 |
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.
|
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: [email protected]
Website: https://www.psp.org/ -
Defeat MSA Alliance
29924 Jefferson Avenue
Saint Clair Shores, MI 48082
Telephone: 855-542-5672
E-mail: [email protected], [email protected]
Website: https://defeatmsa.org/ -
Dysautonomia Information Network
PO Box 10057
Swanzey, NH 03446, NH 03446
E-mail: [email protected]
Website: https://www.dinet.org/ -
Dysautonomia International
P.O. Box 596
East Moriches, NY 11940
E-mail: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://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).
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Multiple system atrophy. This website is maintained by the National Library of Medicine.
- 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.
References
- 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.
- Diedrich A & Robertson D. Multiple System Atrophy. Medscape Reference. 2017; https://emedicine.medscape.com/article/1154583-overview.
- Factor SA & Esper CD. Multiple system atrophy: Clinical features and diagnosis. UpToDate. March 2, 2017; https://www.uptodate.com/contents/multiple-system-atrophy-clinical-features-and-diagnosis.
- Multiple system atrophy. MedlinePlus. November 2, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000757.htm.
- Multiple System Atrophy. National Organization for Rare Diseases (NORD). 2013; https://rarediseases.org/rare-diseases/multiple-system-atrophy/.
- 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.
- 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.