myofibrillar myopathy 5
MeSH: C537932ORPHA: 171445
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 5, sourced from HPO and Orphanet clinical annotations.
EMG: myopathic abnormalitiesMildly elevated creatine kinaseProximal lower limb muscle weaknessGait disturbanceRespiratory insufficiencyBack painDifficulty climbing stairsMuscle fiber splittingCardiomyopathyLeft ventricular hypertrophyScapular wingingPeripheral neuropathyComplete right bundle branch blockFatty replacement of skeletal muscleLeft ventricular diastolic dysfunctionAbnormality of peripheral nervous system electrophysiologyWeakness of facial musculatureJoint contractureMyalgiaNeck flexor weaknessExtremely elevated creatine kinaseAbnormality of masticatory muscle
Classification & Codes
MeSH Code
C537932Orphanet Code
ORPHA:171445myofibrillar myopathy 5
| MeSH | C537932 |
| Orphanet | ORPHA:171445 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO