Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

A rare genetic non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia typically without ptosis associated with mild very slowly progressive muscular weakness and atrophy involving the facial neck flexor and limb (upper > lower proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity absent or abnormally small type 2A fibers increased variability of fiber size internalized nuclei and/or fatty infiltration.

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: // Data version September 2023.

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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?

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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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