congenital fiber-type disproportion
ORPHA: 2020
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 fiber-type disproportion, sourced from HPO and Orphanet clinical annotations.
HypotoniaProgressive muscle weaknessType 1 muscle fiber atrophyHigh palateDental crowdingMotor delayAreflexiaReduced tendon reflexesFlexion contractureFailure to thriveWeight lossDysphagiaMyopathic faciesAbnormality of the respiratory systemPoor head controlRespiratory insufficiency due to muscle weaknessEasy fatigabilityWeakness of muscles of respirationPoor appetiteAbnormal skeletal morphologyFeeding difficultiesFatigueFatigable weakness of bulbar musclesWeakness of facial musculatureLong faceMicrognathiaOphthalmoplegiaPectus excavatumCongenital hip dislocationDecreased fetal movementPolyhydramniosHoarse voiceAbnormal heart morphologyCor pulmonalePes cavusTalipes equinovarusRecurrent respiratory infectionsHeadacheSleep disturbanceScoliosisKyphoscoliosisRespiratory failureElbow flexion contractureHip contractureHyperlordosisGeneralized muscle weaknessShoulder girdle muscle weaknessPelvic girdle muscle weaknessIntercostal muscle weaknessImpaired masticationKnee flexion contractureAnkle flexion contractureHypoplasia of the musculatureFoot dorsiflexor weaknessNasogastric tube feeding in infancyAspiration pneumoniaHypercapniaHypoxemiaFlexion contracture of finger
Classification & Codes
Orphanet Code
ORPHA:2020congenital fiber-type disproportion
| Orphanet | ORPHA:2020 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO