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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.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center