myopathy, tubular aggregate, 1
ORPHA: 2593
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 myopathy, tubular aggregate, 1, sourced from HPO and Orphanet clinical annotations.
MyalgiaMuscle spasmEMG: myopathic abnormalitiesFatigable weaknessFatiguable weakness of proximal limb musclesMuscle fiber tubular inclusionsIncreased variability in muscle fiber diameterCentrally nucleated skeletal muscle fibersType 2 muscle fiber atrophy
Classification & Codes
Orphanet Code
ORPHA:2593myopathy, tubular aggregate, 1
| Orphanet | ORPHA:2593 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO