Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Inclusion body myopathy 2
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Find a Specialist
    • Related Diseases
    • Research
    • Organizations
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Inclusion body myopathy 2


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
IBM2; Inclusion body myopathy, autosomal recessive; Inclusion body myopathy, quadriceps-sparing; IBM2; Inclusion body myopathy, autosomal recessive; Inclusion body myopathy, quadriceps-sparing; QSM; Hereditary inclusion body myopathy; HIBM; Distal myopathy with rimmed vacuoles; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy See More
Categories:
Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders; Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases See More

Summary Summary


Listen
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 inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time.[1] Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance.[2] Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner.[1] Treatment is focused on managing individual symptoms.[3]
Last updated: 1/13/2014

Symptoms Symptoms


Listen
Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of  the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear.[1]
Last updated: 1/13/2014

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.

Showing of 33 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Fatty replacement of skeletal muscle 0012548
Foot dorsiflexor weakness
Foot drop
0009027
Mildly elevated creatine kinase 0008180
Muscle fiber inclusion bodies 0100299
Rimmed vacuoles 0003805
Tibialis muscle weakness 0008963
30%-79% of people have these symptoms
Absent Achilles reflex
Absent ankle reflexes
0003438
EMG: myopathic abnormalities 0003458
EMG: myotonic discharges 0100284
EMG: positive sharp waves 0030007
Hip flexor weakness 0012515
Hypothyroidism
Underactive thyroid
0000821
Increased variability in muscle fiber diameter 0003557
Limited shoulder movement 0006467
Limited wrist extension 0006251
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Steppage gait
High stepping
0003376
5%-29% of people have these symptoms
Abnormal right hemidiaphragm morphology 0040047
Abnormality of the foot musculature
Abnormal foot muscles
0001436
Facial palsy
Bell's palsy
0010628
Lower limb amyotrophy 0007210
Scapular winging
Winged shoulder blade
0003691
Shoulder girdle muscle atrophy
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ]
0003724
1%-4% of people have these symptoms
Cardiomyopathy
Disease of the heart muscle
0001638
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
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Deposits immunoreactive to beta-amyloid protein 0003791
Distal amyotrophy
Distal muscle wasting
0003693
Distal muscle weakness
Weakness of outermost muscles
0002460
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
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Showing of 33 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


Listen
Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2.[1][2] Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition.[1]
Last updated: 1/13/2014

Inheritance Inheritance


Listen
Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 1/13/2014

Diagnosis Diagnosis


Listen

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.

Testing Resources

  • 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.

Treatment Treatment


Listen
Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[2] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[3]

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. 

Last updated: 1/13/2014

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


Listen

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.

Research Research


Listen

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Inclusion body myopathy 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


Listen

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

  • ARM (Advancement of Research for Myopathies)
    P.O. Box 261926
    Encino, CA 91426-1926
    Telephone: (800) ARM-2000
    E-mail: http://hibm.org/arm/about_arm:contact_us
    Website: http://www.hibm.org/arm/home
  • 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
  • Neuromuscular Disease Foundation
    269 South Beverly Drive, Suite 1206
    Beverly Hills, CA 90212
    Telephone: 310-736-2978
    Website: https://curehibm.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

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

  • Genetics Home Reference (GHR) contains information on Inclusion body myopathy 2. This website is maintained by the National Library of Medicine.

In-Depth Information

  • 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.

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Inclusion body myopathy 2. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2. Accessed 12/4/2012.
  2. About HIBM. Neuromuscular Disease Foundation. http://www.ndf-hibm.org/index.php/about-hibm. Accessed 12/4/2012.
  3. O'Ferrall E, Sinnreich M. GNE-Related Myopathy. GeneReviews. August 2009; http://www.ncbi.nlm.nih.gov/books/NBK1262/. Accessed 12/4/2012.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen