Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: HIBM3 | Hereditary inclusion body myopathy type 3 | IBM3 | Inclusion body myopathy type 3

A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness external ophthalmoplegia with or without ptosis and joint contractures. Hypotonia neonatal respiratory distress necessitating ventilation and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers marked variability in fiber size increased internal nuclei and proliferation of perimysial and endomysial connective tissue.

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 Data version June 2024

Newly diagnosed with
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.