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Genetics Home Reference: your guide to understanding genetic conditions
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Myasthenia gravis

Reviewed July 2012

What is myasthenia gravis?

Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling.

Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest.

Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications.

People can develop myasthenia gravis at any age. For reasons that are unknown, 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 myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.

How common is myasthenia gravis?

Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals.

What genes are related to myasthenia gravis?

Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder.

Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. In myasthenia gravis, the immune system disrupts the transmission of nerve impulses to muscles by producing a protein called an antibody that attaches (binds) to proteins important for nerve signal transmission. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in myasthenia gravis attacks a normal human protein. In most affected individuals, the antibody targets a protein called acetylcholine receptor (AChR); in others, the antibodies attack a related protein called muscle-specific kinase (MuSK). In both cases, the abnormal antibodies lead to a reduction of available AChR.

The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement. In myasthenia gravis, because of the abnormal immune response, less AChR is present, which reduces signaling between nerve and muscle cells. These signaling abnormalities lead to decreased muscle movement and the muscle weakness characteristic of this condition.

It is unclear why the immune system malfunctions in people with myasthenia gravis. About 75 percent of affected individuals have an abnormally large and overactive thymus, which is a gland located behind the breastbone that plays an important role in the immune system. The thymus sometimes develops tumors (thymomas) that are usually noncancerous (benign). However, the relationship between the thymus problems and the specific immune system malfunction that occurs in myasthenia gravis is not well understood.

People with myasthenia gravis are at increased risk of developing other autoimmune disorders, including autoimmune thyroid disease and systemic lupus erythematosus. Gene variations that affect immune system function likely affect the risk of developing myasthenia gravis and other autoimmune disorders.

Some families are affected by an inherited disorder with symptoms similar to those of myasthenia gravis, but in which antibodies to the AChR or MuSK proteins are not present. This condition, which is not an autoimmune disorder, is called congenital myasthenic syndrome.

How do people inherit myasthenia gravis?

In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown.

Where can I find information about diagnosis or management of myasthenia gravis?

These resources address the diagnosis or management of myasthenia gravis and may include treatment providers.

  • Cleveland Clinic (http://my.clevelandclinic.org/neurological_institute/neuromuscular-center/diseases-conditions/myasthenia-gravis.aspx)
  • Genetic Testing Registry: Myasthenia gravis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0026896)
  • Genetic Testing Registry: Myasthenia gravis with thymus hyperplasia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1846838)
  • MedlinePlus Encyclopedia: Acetylcholine Receptor Antibody (http://www.nlm.nih.gov/medlineplus/ency/article/003576.htm)
  • MedlinePlus Encyclopedia: Tensilon Test (http://www.nlm.nih.gov/medlineplus/ency/article/003930.htm)

You might also find information on the diagnosis or management of myasthenia gravis in Educational resources (http://www.ghr.nlm.nih.gov/condition/myasthenia-gravis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/myasthenia-gravis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about myasthenia gravis?

You may find the following resources about myasthenia gravis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for myasthenia gravis?

  • MG

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about myasthenia gravis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding myasthenia gravis?

acetylcholine ; antibody ; autoimmune ; benign ; complication ; congenital ; diagnosis ; double vision ; dysarthria ; dysphagia ; gait ; gene ; immune response ; immune system ; inheritance ; inheritance pattern ; inherited ; kinase ; lupus ; muscle cells ; neonatal ; prevalence ; protein ; ptosis ; receptor ; respiratory ; syndrome ; systemic lupus ; systemic lupus erythematosus ; thymus ; thyroid ; transient

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Angelini C. Diagnosis and management of autoimmune myasthenia gravis. Clin Drug Investig. 2011;31(1):1-14. doi: 10.2165/11584740-000000000-00000. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21053987?dopt=Abstract)
  • Carr AS, Cardwell CR, McCarron PO, McConville J. A systematic review of population based epidemiological studies in Myasthenia Gravis. BMC Neurol. 2010 Jun 18;10:46. doi: 10.1186/1471-2377-10-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20565885?dopt=Abstract)
  • Evoli A. Acquired myasthenia gravis in childhood. Curr Opin Neurol. 2010 Oct;23(5):536-40. doi: 10.1097/WCO.0b013e32833c32af. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20581680?dopt=Abstract)
  • Gomez AM, Van Den Broeck J, Vrolix K, Janssen SP, Lemmens MA, Van Der Esch E, Duimel H, Frederik P, Molenaar PC, Martínez-Martínez P, De Baets MH, Losen M. Antibody effector mechanisms in myasthenia gravis-pathogenesis at the neuromuscular junction. Autoimmunity. 2010 Aug;43(5-6):353-70. doi: 10.3109/08916930903555943. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20380584?dopt=Abstract)
  • Guptill JT, Sanders DB. Update on muscle-specific tyrosine kinase antibody positive myasthenia gravis. Curr Opin Neurol. 2010 Oct;23(5):530-5. doi: 10.1097/WCO.0b013e32833c0982. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20613516?dopt=Abstract)
  • Mao ZF, Mo XA, Qin C, Lai YR, Olde Hartman TC. Course and prognosis of myasthenia gravis: a systematic review. Eur J Neurol. 2010 Jul;17(7):913-21. doi: 10.1111/j.1468-1331.2010.03017.x. Epub 2010 Apr 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20402761?dopt=Abstract)
  • Mao ZF, Yang LX, Mo XA, Qin C, Lai YR, He NY, Li T, Hackett ML. Frequency of autoimmune diseases in myasthenia gravis: a systematic review. Int J Neurosci. 2011 Mar;121(3):121-9. doi: 10.3109/00207454.2010.539307. Epub 2010 Dec 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21142828?dopt=Abstract)
  • McGrogan A, Sneddon S, de Vries CS. The incidence of myasthenia gravis: a systematic literature review. Neuroepidemiology. 2010;34(3):171-83. doi: 10.1159/000279334. Epub 2010 Feb 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20130418?dopt=Abstract)
  • Pal J, Rozsa C, Komoly S, Illes Z. Clinical and biological heterogeneity of autoimmune myasthenia gravis. J Neuroimmunol. 2011 Feb;231(1-2):43-54. doi: 10.1016/j.jneuroim.2010.10.020. Epub 2010 Nov 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21093931?dopt=Abstract)
  • Vrolix K, Fraussen J, Molenaar PC, Losen M, Somers V, Stinissen P, De Baets MH, Martínez-Martínez P. The auto-antigen repertoire in myasthenia gravis. Autoimmunity. 2010 Aug;43(5-6):380-400. doi: 10.3109/08916930903518073. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20380581?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2012
Published: August 25, 2014