congenital multicore myopathy with external ophthalmoplegia
ORPHA: 98905
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital multicore myopathy with external ophthalmoplegia, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityExternal ophthalmoplegiaMotor delayGeneralized hypotoniaMuscle weaknessDecreased fetal movementMyopathic faciesAbnormal respiratory system physiologyAxial muscle weaknessIncreased variability in muscle fiber diameterMuscular dystrophyProximal muscle weaknessType 1 muscle fiber predominanceIncreased connective tissueFacial palsyAbnormal skeletal muscle morphologyType 1 muscle fiber atrophyFeeding difficultiesInternally nucleated skeletal muscle fibersHypertrophied muscle fibersCryptorchidismSmall scrotumMicropenisHigh palateNarrow facePtosisEdemaFacial diplegiaFlexion contracturePolyhydramniosPneumoniaRecurrent respiratory infectionsScoliosisRespiratory failureSkeletal muscle atrophyShoulder girdle muscle weaknessNemaline bodiesSevere postnatal growth retardationDifficulty runningTented upper lip vermilionTibialis anterior muscle atrophySternocleidomastoid amyotrophyFrog-leg postureRectus femoris muscle atrophy
Classification & Codes
Orphanet Code
ORPHA:98905congenital multicore myopathy with external ophthalmoplegia
| Orphanet | ORPHA:98905 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO