Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

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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 Data version June 2024

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Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?

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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.

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Clinical Trials

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