childhood-onset nemaline myopathy
ORPHA: 171439
Overview
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction
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 childhood-onset nemaline myopathy, sourced from HPO and Orphanet clinical annotations.
Long faceHypertelorismMicrognathiaNeck muscle weaknessNarrow chestAreflexiaGeneralized hypotoniaFacial diplegiaFlexion contractureSlender buildBreech presentationCardiomyopathyPes cavusFetal akinesia sequenceBulbar signsWaddling gaitScoliosisRespiratory insufficiency due to muscle weaknessReduced vital capacityScapular wingingMildly elevated creatine kinaseFeeding difficultiesFatigable weakness of bulbar musclesPtosisPolyhydramniosArthrogryposis multiplex congenitaMyopathyEMG: myopathic abnormalitiesNemaline bodiesHyporeflexiaMotor delayGait disturbanceBradykinesiaNeuromuscular dysphagiaClumsinessSpinal rigidityExercise intoleranceMuscle stiffnessIncreased variability in muscle fiber diameterLimb muscle weaknessType 1 muscle fiber predominanceGeneralized limb muscle atrophyIncreased muscle lipid contentHigh palateNarrow face
Classification & Codes
Orphanet Code
ORPHA:171439childhood-onset nemaline myopathy
| Orphanet | ORPHA:171439 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO