Hereditary myopathy with early respiratory failure
Synonyms: Edström Myopathy | HIBM-ERF | HMERF | Hereditary inclusion body myopathy with early respiratory failure | MFM-titinopathy | Myofibrillar myopathy with early respiratory failure | Myofibrillar myopathy-titinopathy
A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness foot extensor weakness and in rare cases mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies as well as fiber size variation increased internal nuclei and connective tissue fiber splitting and 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 September 2023.
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Hereditary myopathy with early respiratory failure?
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Advocacy Organizations
Team Titin
Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.
Foundation for Casey’s Cure Inc
To support advancement of research and spread awareness for muscular dystrophy and other rare disorders.
Foundation for Casey’s Cure Inc
To support advancement of research and spread awareness for muscular dystrophy and other rare disorders.
Girls Chronically Rock
Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.
Association Aux Pas du Coeur
Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.