Inclusion body myopathy 2
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
IBM2; Inclusion body myopathy, autosomal recessive; Inclusion body myopathy, quadriceps-sparing;
Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders;
Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an
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||
|80%-99% of people have these symptoms|
|Fatty replacement of skeletal muscle||0012548|
|Foot dorsiflexor weakness||
|Mildly elevated creatine kinase||0008180|
|Muscle fiber inclusion bodies||0100299|
|Tibialis muscle weakness||0008963|
|30%-79% of people have these symptoms|
|Absent Achilles reflex||
Absent ankle reflexes
|EMG: myopathic abnormalities||0003458|
|EMG: myotonic discharges||0100284|
|EMG: positive sharp waves||0030007|
|Hip flexor weakness||0012515|
|Increased variability in muscle fiber diameter||0003557|
|Limited shoulder movement||0006467|
|Limited wrist extension||0006251|
|Shoulder girdle muscle weakness||
Weak shoulder muscles
|5%-29% of people have these symptoms|
|Abnormal right hemidiaphragm morphology||0040047|
|Abnormality of the foot musculature||
Abnormal foot muscles
|Lower limb amyotrophy||0007210|
Winged shoulder blade
|Shoulder girdle muscle atrophy||
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ]
|1%-4% of people have these symptoms|
Disease of the heart muscle
|Distal lower limb muscle weakness||0009053|
|Weakness of long finger extensor muscles||0009077|
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
|Deposits immunoreactive to beta-amyloid
Distal muscle wasting
|Distal muscle weakness||
Weakness of outermost muscles
|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 creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other adult-onset distal myopathies with rimmed vacuolar pathology (i.e. distal myopathy, Welander type; tibial muscular dystrophy; adult-onset distal myopathy due to VCP mutation; and vocal cord and pharyngeal distal myopathy), myofibrillar myopathies, and Laing early-onset distal myopathy.
Visit the Orphanet disease page for more information.
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.
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.
- Genetics Home Reference (GHR) contains information on Inclusion body myopathy 2. This website is maintained by the National Library of Medicine.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
The Online Mendelian Inheritance in Man (OMIM)
The Online Mendelian Inheritance in Man (OMIM)
- 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 myopathy 2. Click on the link to view a sample search on this topic.
- Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.
- About HIBM. Neuromuscular Disease Foundation. https://www.ndf-hibm.org/index.php/about-hibm. Accessed 12/4/2012.
- O'Ferrall E, Sinnreich M. GNE-Related Myopathy. GeneReviews. August 2009; https://www.ncbi.nlm.nih.gov/books/NBK1262/. Accessed 12/4/2012.