Synonyms: DMRV | Distal myopathy with rimmed vacuoles | Distal myopathy, Nonaka type | HIBM2 | Hereditary inclusion body myopathy type 2 | IBM2 | Inclusion body myopathy type 2 | Nonaka myopathy | Quadriceps-sparing myopathy
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version October 2026
Newly diagnosed with
GNE myopathy?
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Advocacy Organizations
Association Aux Pas du Coeur – Côte d’ivoire
Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
CDG CARE
CDG CARE (Community Alliance and Resource Exchange) is a 501(c)(3) nonprofit public charity dedicated to representing all Congenital Disorders of Glycosylation (CDG) — a group of rare, inherited metabolic disorders that disrupt a complex enzymatic process essential to nearly every system in the body. Founded by parents seeking information, connection, and hope, CDG CARE has grown into a global organization serving patients, families, clinicians, and researchers across more than 200 known CDG types. Our mission is to raise awareness, support families, and fund research to improve the diagnosis, care, and treatment of CDGs. We pursue this mission through programs that meet families wherever they are in their journey, from the moment of diagnosis through the search for therapies. At every level of our work, CDG CARE is driven by a simple belief: that no family facing a CDG diagnosis should feel alone, and that together... families, scientists, clinicians, and advocates, we can move research, therapies, and hope forward.
CDG Canada
CDG Canada supports patients and families affected by Congenital Disorders of Glycosylation (CDG).
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
Portuguese Association for CDG
The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.