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central core myopathy

MeSH: D020512ORPHA: 597

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 central core myopathy, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityHypotoniaMotor delayCongenital hip dislocationMitral valve prolapseTalipes equinovarusPes planusMalignant hyperthermiaKyphoscoliosisMultiple joint contracturesMyopathyEasy fatigabilityMuscle stiffnessPelvic girdle muscle weaknessType 1 muscle fiber predominanceCentral core regions in muscle fibersOphthalmoplegiaBulbar signsNemaline bodiesAbnormal circulating creatine kinase concentrationFetal akinesia sequenceNeonatal respiratory distressRespiratory insufficiency due to muscle weaknessElevated circulating creatine kinase concentration

Classification & Codes

MeSH Code

D020512

Orphanet Code

ORPHA:597
central core myopathy
MeSHD020512
OrphanetORPHA:597
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO