nebulin-related early-onset distal myopathy
ORPHA: 399103
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 nebulin-related early-onset distal myopathy, sourced from HPO and Orphanet clinical annotations.
High palateEMG: myopathic abnormalitiesNeck flexor weaknessNemaline bodiesAnkle flexion contractureWeakness of the intrinsic hand musclesFoot dorsiflexor weaknessProgressive distal muscle weaknessWeakness of long finger extensor musclesSternocleidomastoid amyotrophySlender buildExertional dyspneaProgressive proximal muscle weaknessFatty replacement of skeletal muscleWeakness of facial musculatureCardiomyopathy
Classification & Codes
Orphanet Code
ORPHA:399103nebulin-related early-onset distal myopathy
| Orphanet | ORPHA:399103 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO