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Disease Profile

Inclusion body myositis

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 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Adult

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ICD-10

M60.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

IBM; Inflammatory myopathy; Sporadic inclusion body myositis

Categories

Musculoskeletal Diseases; Nervous System Diseases

Summary

Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person. The most common symptoms include progressive weakness of the legs, arms, fingers, and wrists. Some people also have weakness of the facial muscles (especially muscles controlling eye closure), or difficulty swallowing (dysphagia). Muscle cramping and pain are uncommon, but have been reported in some people.[1][2]

Most people with IBM progress to disability over a period of years. In general, the older a person is when IBM begins, the more rapid the progression of the condition. Most people need assistance with basic daily activities within 15 years, and some people will need to use a wheelchair. Lifespan is thought to be normal, but severe complications (e.g. aspiration pneumonia) can lead to loss of life.[3]

The underlying cause of IBM is poorly understood and likely involves the interaction of genetic, immune-related, and environmental factors. Some people may have a genetic predisposition to developing IBM, but the condition itself typically is not inherited.[2]

There is currently no cure for IBM.[2] The primary goal of management is to optimize muscle strength and function.[3] Management may include exercise, fall prevention, physical therapy, occupational therapy, and speech therapy (for dysphagia). There is limited evidence that a small proportion of patients may benefit from drugs that suppress the immune system (particularly those with underlying autoimmune disorders), but this therapy is otherwise typically not recommended.[3]

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
80%-99% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
EMG abnormality
0003457
Inflammatory myopathy
0009071
Quadriceps muscle weakness
Quadriceps weakness
0003731
Ragged-red muscle fibers
0003200
Rimmed vacuoles
0003805
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
30%-79% of people have these symptoms
Feeding difficulties in infancy
0008872
Reduced tendon reflexes
0001315
5%-29% of people have these symptoms
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Slow progression
Signs and symptoms worsen slowly with time
0003677
Sporadic
No previous family history
0003745

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

    Organizations Providing General Support

      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 Inclusion body myositis. 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 Inclusion body myositis. Click on the link to view a sample search on this topic.

          References

          1. Miller ML, Lloyd TE. Clinical manifestations and diagnosis of inclusion body myositis. UpToDate. Waltham, MA: UpToDate; Match 7, 2016; https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-inclusion-body-myositis.
          2. Sporadic Inclusion Body Myositis. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/sporadic-inclusion-body-myositis/.
          3. Lloyd TE. Management of inclusion body myositis. UpToDate. Waltham, MA: UpToDate; May 18, 2017; https://www.uptodate.com/contents/management-of-inclusion-body-myositis.