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Disease Profile
Myasthenia gravis
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
All ages
ICD-10
G70.0
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
Categories
Nervous System Diseases
Summary
Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. Weakness tends to increase during periods of activity and improve after periods of rest. The condition results from a defect in the transmission of nerve impulses to muscles, which is due to the presence of
Symptoms
In general, signs and symptoms of MG may include:[1]
- Drooping of one or both eyelids (
ptosis ) - Blurred or double vision (diplopia)
- Unstable or waddling gait (manner of walking)
- Weakness in the arms, hands, fingers, legs, and neck
- Change in facial expression
- Difficulty swallowing and shortness of breath
- Impaired speech (
dysarthria )
People can develop MG at any age. For unknown reasons, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with MG have signs and symptoms of the condition for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.[3]
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 | ||
Abnormality of the thymus | 0000777 | |
Acetylcholine receptor antibody positivity | 0030208 | |
Bulbar palsy | 0001283 | |
Diplopia |
Double vision
|
0000651 |
Dysarthria |
Difficulty articulating speech
|
0001260 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Dyspnea |
Trouble breathing
|
0002094 |
Muscle specific kinase antibody positivity | 0030210 | |
Myositis |
Muscle inflammation
|
0100614 |
Ophthalmoparesis |
Weakness of muscles controlling eye movement
|
0000597 |
Ptosis |
Drooping upper eyelid
|
0000508 |
Single fiber EMG abnormality | 0030006 | |
5%-29% of people have these symptoms | ||
Glycosuria |
Glucose in urine
|
0003076 |
Hashimoto thyroiditis | 0000872 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperacusis | 0010780 | |
Hyperthyroidism |
Overactive thyroid
|
0000836 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Primary adrenal insufficiency | 0008207 | |
Raynaud phenomenon | 0030880 | |
Rheumatoid |
0001370 | |
Systemic lupus erythematosus | 0002725 | |
1%-4% of people have these symptoms | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
0001878 | ||
Hepatitis |
Liver inflammation
|
0012115 |
Psychosis | 0000709 | |
Pure red |
0012410 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the endocrine system | 0000818 | |
Abnormality of the |
Immunological abnormality
|
0002715 |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Facial palsy |
Bell's palsy
|
0010628 |
Fatigable weakness | 0003473 | |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] |
0005216 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Multifactorial inheritance | 0001426 | |
Nasal speech |
Nasal voice
|
0001611 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Thymoma | 0100522 |
Cause
MG is a type of autoimmune disorder. Autoimmune disorders occur when the
Normally when impulses travel down a nerve, the nerve endings release a neurotransmitter substance called acetylcholine. Acetylcholine travels from the neuromuscular junction - the place where nerve cells connect with the muscles they control and binds to acetylcholine receptors which are activated and generate a muscle contraction. In myasthenia gravis, antibodies block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents a muscle contraction from occurring. These antibodies are produced by the body's own immune system.[1]
In some cases, MG is linked to
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Eculizumab(Brand name: Soliris) Manufactured by Alexion Pharmaceuticals, Inc.
FDA-approved indication: October 2017, eculizumab (Soliris) was approved for the treatment of adult patients with generalized Myasthenia Gravis (gMG) who are anti-acetylcholine receptor (AchR)antibody positive.
National Library of Medicine Drug Information Portal
Medline Plus Health 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
-
Myasthenia Gravis Foundation of America, Inc.
355 Lexington Avenue, 15th Floor
New York, NY 10017
Toll-free: 800-541-5454
Fax: 212-297-2159
E-mail: mgfa@myasthenia.org
Website: https://www.myasthenia.org -
Myaware Fighting Myasthenia Together
Derby, United Kingdom
Telephone: 01332 290 219
E-mail: info@myaware.org
Website: https://www.myaware.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).
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/ -
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org
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
- The Muscular Dystrophy Association provides additional information on myasthenia gravis. Click on the link to view this information page.
- 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 Myasthenia gravis. This website is maintained by the National Library of Medicine.
- 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 Myasthenia gravis. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
References
- Myasthenia Gravis Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). July 27, 2015; https://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm.
- Kantor D. Myasthenia gravis. MedlinePlus. June 1, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000712.htm.
- Myasthenia gravis. Genetics Home Reference (GHR). July 2012; https://ghr.nlm.nih.gov/condition/myasthenia-gravis.
- Myasthenia Gravis Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2016; https://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm.
- Myasthenia Gravis: Frequently Asked Questions. Myasthenia Gravis Foundation of America. 2010; https://www.myasthenia.org/WhatisMG/FAQs.aspx.
- Shah AK. Myasthenia Gravis. Medscape Reference. March 23 2016; https://emedicine.medscape.com/article/1171206-overview.
- Myasthenia Gravis. NORD. 2014; https://rarediseases.org/rare-diseases/myasthenia-gravis/.
- James F. Howard, Jr. Clinical Overview of MG. Myasthenia Gravis Foundation of America. 2015; https://www.myasthenia.org/HealthProfessionals/ClinicalOverviewofMG.aspx.
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