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Sporadic Inclusion Body Myositis

NORD is very grateful to Steven A Greenberg, MD, Associate Professor of Neurology, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Sporadic Inclusion Body Myositis

  • IBM

Disorder Subdivisions

  • Inflammatory Myopathy

General Discussion

Sporadic inclusion body myositis (sIBM) is an acquired progressive muscle disorder that becomes apparent during adulthood. The symptoms and progression of sIBM vary from one person to another. In most cases, sIBM is characterized by progressive weakness and degeneration (atrophy) of the muscles especially those of the arms and the legs. sIBM can progress to cause severe disability. The exact cause of the disorder is unknown and the muscle tissue of affected individuals shows both inflammatory and degenerative changes. sIBM is a complex disorder and, most likely, multiple factors including genetic, immunological and environmental ones in combination all play a role in its development.

Symptoms

The distribution, severity and progression of muscle weakness vary from one person to another. In some cases, sIBM may affect one arm or leg more than the other. In most cases, the progression is very slow. Generally, the older a person is when the disorder develops, the more rapidly it progresses. The muscles of the thighs, wrists and fingers are usually affected more severely than other muscles. Many individuals with sIBM first present with a tendency to trip or fall because of muscle weakness affecting the large muscle of the thigh (quadriceps).

Muscles in the wrists, fingers, and neck are also commonly affected. Weakness in the hands may be the first noticeable symptoms in some cases. Muscle weakness in the fingers can affect the grip making it difficult to perform functions such as gripping a golf club. Eventually, affected individuals may have difficulty manipulating objects with their hands such as turning a key, buttoning a shirt, or writing with a pen or pencil. In rare cases, muscle weakness in the neck can cause the head to drop.

Weakness of the muscles below the knees can cause the toes to catch when walking or the foot to drop increasing an affected individual's tendency to fall. Affected individuals may also have trouble walking up stairs and or rising from a sitting position.

Difficulty swallowing (dysphagia) due to weakness of throat muscles may occur in individuals with sIBM. Dysphagia can potentially cause choking episodes. Facial muscle weakness occurs in some cases as well.

Muscle cramping, pain (myalgia) or tenderness do not usually occur, but has been reported. Although sIBM progresses slowly, it can eventually cause significant disability and many affected individuals eventually require an assistive device such as a cane, walker or wheelchair.

Causes

The cause of sIBM is unknown and complex . Researchers believe multiple immunological, genetic and environmental factors and factors related to aging all play a role in the development of the disorder. Researchers have identified two distinct processes - one autoimmune and one degenerative - that occur in individuals with sIBM. It is possible that these processes may be closely related.

Numerous factors support that sIBM is an autoimmune disorder, especially the presence of certain inflammatory white blood cells in the muscle tissue of affected individuals. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy tissue. The inflammatory findings associated with sIBM led to it to be classified as an autoimmune inflammatory muscle disease along with other prominent inflammatory muscle diseases such as dermatomyositis and polymyositis. However, sIBM does not respond to conventional therapies normally used to treat autoimmune disorders suggesting that other factors play a critical role in the development of sIBM.

In addition to the inflammatory process, researchers have determined that some muscle tissue of individuals with sIBM shows degenerative changes, especially muscle tissue that is not affected by the inflammatory process discussed above. Specifically, the muscle tissue of affected individuals contains numerous sub-cellular compartments called vacuoles. These compartments have been reported to contain abnormal clumps of many different proteins. These clumps, often called "inclusion bodies", give the disorder its name. This significant degenerative component has led some researchers to argue that sIBM is primarily a degenerative muscle disorder and not an inflammatory one.

It is unknown what triggers or underlies the inflammatory or degenerative changes that characterize sIBM. A viral infection may precede the development of sIBM in some cases. In such cases, an abnormal immune system response against a virus may contribute to the development of sIBM.

Some individuals with sIBM may have a genetic predisposition that makes them more susceptible to developing sIBM. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease.

Affected Populations

sIBM affects males slightly more often than females. Its prevalence is estimated to be between 14.9 people per 1,000,000 in the general population. It occurs with greater frequency in individuals more than 50 years of age. The prevalence is estimated to be 51.3 per 1,000,000 individuals in the general population over 50, making sIBM the most common acquired muscle disorder (myopathy) in that age group. Despite growing awareness of this disorder, many researchers believe it remains underdiagnosed.

Although sIBM does not occur with greater frequency in any specific ethnic or racial group, it apparently occurs less often in individuals of African descent.

Related Disorders

Symptoms of the following disorders can be similar to those of sIBM. Comparisons may be useful for a differential diagnosis.

Familial inflammatory inclusion body myositis is an extremely rare condition that has been reported in multiple members of several different families. The symptoms of this disorder closely resemble those of sIBM including a later age of onset and a similar pattern of muscle involvement, especially the prominent involvement of the quadriceps muscle and the muscles of the fingers and hands.

Hereditary inclusion body myopathies are a rare group of genetic muscle disorders. As with individuals with sIBM, the muscle tissue of affected individuals contains numerous sub-cellular compartments called vacuoles. The age of onset of these disorders is generally between 20 and 40 years of age. Although the underlying damage to the muscles is similar among these disorders, the specific muscles involved, the progression, and associated symptoms vary. The severity of these disorders also varies even among individuals with the same disorder. The hereditary inclusion body myopathies may be inherited as autosomal dominant or recessive traits and are caused by mutations of specific genes.

Polymyositis is a rare inflammatory disease characterized by degenerative changes in muscles and supporting connective tissue. Muscle weakness may occur rapidly and affect the neck, trunk, and upper arms and legs. Joint pain, swelling, and tenderness may be present. Eventually, it becomes difficult for affected individuals to rise from a sitting position. In some cases, individuals may have difficulty climbing stairs, lifting objects, and reaching overhead. The exact cause of polymyositis is unknown, although the interaction of genetic, viral, and environmental factors may play a role. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database.)

A wide variety of disorders are characterized by progressive muscle wasting and weakness that can potentially resemble sIBM. These disorders include dermatomyositis, myasthenia gravis, chronic inflammatory demyelinating polyneuropathy (CIDN), myofibrillar myopathies, amyotrophic lateral sclerosis, myotonic dystrophy, motor neuron disease, metabolic disorders such as Pompe disease, and the muscular dystrophies including oculopharyngeal muscular dystrophy and the distal myopathies. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
The diagnosis of sIBM is made based upon a thorough clinical evaluation, a careful patient history, and a variety of specialized tests, such as a muscle biopsy. A muscle biopsy is a procedure in which a tiny amount of muscle tissue is surgically removed and studied under a microscope to detect characteristic changes that indicate sIBM. Additional tests that can be used to aid in a diagnosis include electromyography and blood tests that measure the amount of certain enzymes in muscle tissue.

During an electromyography, a needle electrode is inserted through the skin into an affected muscle. The electrode records the electrical activity of the muscle. This record shows how well a muscle responds to the nerves and can determine whether muscle weakness is caused by the muscle themselves or by the nerves that control the muscles. An electromyography can rule out nerve disorders such as motor neuron disease and peripheral neuropathy.

Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is often found in abnormally high levels when muscle is damaged. Elevated CK levels occur in some, but not all cases of sIBM. The detection of elevated CK levels can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of sIBM. It is typically used to exclude a diagnosis of sIBM.

Treatment
There is no cure for sIBM and the disorder generally does not respond to conventional therapies for autoimmune disorders such as corticosteroids or drugs that suppress the immune system (immunosuppressive drugs). Some individuals have responded to these therapies for a short period of time or to a minor degree (i.e., there is not a full recovery of muscle strength). The specific types of immunosuppressive drugs that have been used to treat individuals with sIBM include azathioprine, methotrexate, cyclosporine, and cyclophosphamide.

Specific treatment options for affected individuals may include physical and occupational therapy to improve muscle strength and, when necessary, the use of various devices including braces, walkers or wheelchairs to assist with walking (ambulation).

Investigational Therapies

Additional drugs have been studied as potential therapies for individuals with sIBM including the immunosuppressive drug, mycophenolate mofetil, and intravenous immunoglobulin, a concentrated preparation containing antibodies obtained from the fluid portion of the blood (plasma) of healthy individuals. Early results suggest that some individuals taking these medications have experienced short-lived improvement of symptoms. More research is necessary to determine the long-term effectiveness and safety of these medications for the treatment of individuals with sIBM.

Newer therapies are also being studied for individuals with sIBM including monoclonal antibodies. Monoclonal antibodies are artificially made antibodies that attach to and either destroy specific cells or interfere with a cell's specific function. Anti-T-lymphocyte globulin is a newer immunosuppressive drug that is being studied as a potential therapy for individuals with sIBM. Oxandrolone is a newer anabolic steroid. Initial studies have demonstrated that these drugs have brought about improvement of symptoms associated with sIBM. More research is necessary to determine the long-term safety and effectiveness of these potential therapies for sIBM.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Sporadic Inclusion Body Myositis

References

TEXTBOOKS
Harris EDJr, Budd RC, Firestein GS, et al. Eds. Kelley's Textbook of Rheumatology. 7th ed. Elsevier Saunders. Philadelphia, PA; 2005:1315-1316.

Calabar I, Plotz PH. Inclusion Body Myositis. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:631-632.

JOURNAL ARTICLES
Needham M, Mastaglia FL. Sporadic inclusion body myositis: a continuing puzzle. Neuromuscular Disorders. 2008;18:6-16.

Garlepp MJ, Mastaglia FL. Inclusion body myositis: new insights into pathogenesis. Curr Opin Rheumatol. 2008;20:662-668.

Dalakas MC. Sporadic inclusion body myositis - diagnosis, pathogenesis and therapeutic strategies. Nat Clin Pract Neurol. 2006;2:437-447.

Engel WK, Askanas V. Inclusion-body myositis. Clinical, diagnostic, and pathologic aspects. Neurology. 2006;66:S20-S29.

Griggs RC. The current status of treatment for inclusion-body myositis. Neurology. 2006;66:S30-S32.

Dalakas MC. Inflammatory, immune, and viral aspects of inclusion-body myositis. Neurology. 2006;66:S33-S38.

Rangue-Francois B, Maisonobe T, Dion E, et al. Familial inflammatory inclusion body myositis. Ann Rheum Dis. 2005;64:634-637.

Lindberg C, Trysberg E, Tarkowski A, Oldfors A. Anti-T-lymphocyte globulin treatment in inclusion body myositis: a randomized pilot study. Neurology. 2003;61:260-262.

Askanas V, Engel WK. Inclusion-body myositis and myopathies: difficult etiologies, possibly similar pathogenic mechanisms. Curr Opin Neurol. 2002;15:525-531.

FROM THE INTERNET
Periquet IM. Collins MP. Barkhaus PE. Inclusion body myositis. Emedicine Journal, May 15, 2006. Available: http://emedicine.medscape.com/article/1172746-overview Accessed on: January 15, 2009.

National Institute of Neurological Disorders and Stoke. Inclusion Body Myositis Information Page. October 28, 2008. Available at: http://www.ninds.nih.gov/disorders/inclusion_body_myositis/inclusion_body_myositis.htm Accessed On: January 15, 2009.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:147421; Last Update:10/24/2008. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147421 Accessed on: January 15, 2009.

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Report last updated: 2010/04/28 00:00:00 GMT+0

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