Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

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Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

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 December 2023

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Advocacy Organizations

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.

Clinical Trials

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