A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness elevated muscle enzymes (creatine kinase) myopathic findings on electromyography and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific thus the disease should be distinguished from similar entities with specific clinical immunological histological features notably dermatomyositis immune-mediated necrotizing myopathy anti-synthetase syndrome inclusion body myositis and myositis associated with other connective tissue disorder.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Myositis Support and Understanding
To improve the lives of and empower those fighting myositis through education, support, awareness, advocacy, and access to research.
Born a Hero, Research Foundation
Our mission is to accelerate innovation and research to improve the quality of life for patients with FGFR Syndromes, including Pfeiffer Syndrome.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.