childhood-onset autosomal recessive myopathy with external ophthalmoplegia
MONDO:0018206
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.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to childhood-onset autosomal recessive myopathy with external ophthalmoplegia. Results are keyword matches, not yet verified disease-to-outbreak relationships.
View childhood-onset autosomal recessive myopathy with external ophthalmoplegia on the outbreak map →childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.