Congenital myopathy with excess of thin filaments

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Congenital myopathy with excess of thin filaments

Synonyms: Actin myopathy

A rare genetic congenital myopathy disorder characterized by variable degrees of muscular weakness frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia lack of spontaneous movements feeding and swallowing difficulties frequent respiratory infections respiratory insufficiency early death) and histopathologic findings of large densely packed subsarcolemmal accumulations of thin actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.

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 April 2024

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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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