myofibrillar myopathy 2
MeSH: C563848ORPHA: 399058
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 myofibrillar myopathy 2, sourced from HPO and Orphanet clinical annotations.
DysphoniaDysphagiaProgressive distal muscle weaknessNeck muscle weaknessHyporeflexiaLimb-girdle muscle weaknessAxial muscle weaknessEMG: myopathic abnormalitiesIncreased variability in muscle fiber diameterAutophagic vacuolesFoot dorsiflexor weaknessAccumulation of muscle fiber desminAbnormal circulating creatine kinase concentrationPosterior capsular cataractMuscle fiber inclusion bodiesGait disturbanceFacial diplegiaCardiomyopathyRespiratory insufficiency due to muscle weaknessMuscle stiffnessProgressive proximal muscle weakness
Classification & Codes
MeSH Code
C563848Orphanet Code
ORPHA:399058myofibrillar myopathy 2
| MeSH | C563848 |
| Orphanet | ORPHA:399058 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO