multiminicore myopathy
ORPHA: 598
Overview
Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy
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 multiminicore myopathy, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityMyopathyMinicore myopathyStrabismusGeneralized hypotoniaJoint stiffnessFailure to thriveRespiratory insufficiencyScoliosisRespiratory insufficiency due to muscle weaknessSpinal rigidityEMG abnormalityAbnormal muscle fiber morphologyShort statureProximal lower limb muscle weaknessProximal upper limb muscle weaknessExternal ophthalmoplegiaMalignant hyperthermiaDistal muscle weaknessArthrogryposis multiplex congenitaMuscular dystrophy
Classification & Codes
Orphanet Code
ORPHA:598multiminicore myopathy
| Orphanet | ORPHA:598 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO