Sporadic late onset nemaline myopathy
ORPHA: 171442
Overview
Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset
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 Sporadic late onset nemaline myopathy, sourced from HPO and Orphanet clinical annotations.
MyopathyEMG: myopathic abnormalitiesNemaline bodiesBradykinesiaMyalgiaUpper limb muscle weaknessIncreased variability in muscle fiber diameterNeck flexor weaknessType 1 muscle fiber predominanceIncreased muscle lipid contentParaproteinemiaHigh palateNarrow faceLong faceMicrognathiaHyporeflexiaGait disturbanceFlexion contractureDilated cardiomyopathyNeuromuscular dysphagiaBulbar signsRespiratory insufficiency due to muscle weaknessReduced vital capacityMuscle stiffnessLower limb muscle weaknessMuscle fibrillationFeeding difficultiesMildly elevated creatine kinase
Classification & Codes
Orphanet Code
ORPHA:171442Sporadic late onset nemaline myopathy
| Orphanet | ORPHA:171442 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO