Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (ORPHA:363677) is an extremely rare inherited muscle disorder characterized by progressive skeletal muscle weakness beginning in childhood, accompanied by external ophthalmoplegia — a condition in which the muscles controlling eye movements become weakened or paralyzed, leading to limited eye mobility and often ptosis (drooping eyelids). The disease follows an autosomal recessive inheritance pattern, meaning a child must inherit two copies of the causative gene variant (one from each parent) to be affected. The condition primarily affects the skeletal muscular system, including the extraocular muscles and limb muscles. Patients typically present in childhood with progressive proximal muscle weakness affecting the limbs, difficulty with activities such as climbing stairs or rising from a seated position, and progressive limitation of eye movements. Facial weakness may also be present. Muscle biopsy findings are consistent with a myopathic process. The disease is classified under congenital myopathies (ICD-10: G71.2). There is currently no curative treatment for this condition. Management is supportive and multidisciplinary, focusing on physical therapy to maintain mobility and muscle function, ophthalmologic monitoring and intervention for ophthalmoplegia and ptosis, and respiratory surveillance if respiratory muscles become involved. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, clinical data remain limited, and further research is needed to better characterize the natural history and identify potential therapeutic targets.

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