Rare Gastroenterology News

Disease Profile

Multiple system atrophy

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

ageofonset-adult.svg

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

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

rnn-multigenetic.svg

Not applicable

notapplicable.svg

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 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]

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 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

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

    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

        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

          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; https://emedicine.medscape.com/article/1154583-overview.
          3. 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.
          4. Multiple system atrophy. MedlinePlus. November 2, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000757.htm.
          5. Multiple System Atrophy. National Organization for Rare Diseases (NORD). 2013; https://rarediseases.org/rare-diseases/multiple-system-atrophy/.
          6. 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.
          7. 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.