genetic disease of muscle (inherited myopathy)

Etiology

• congenital
  • central core disease
  • nemaline myopathy
  • centronuclear myopathy
  • myofibrillar myopathy
  • congenital fiber-type disproportion myopathy
• muscular dystrophy
  • limb-girdle muscular dystrophy
  • Duchenne muscular dystrophy
  • Becker muscular distrophy
  • Emery-Driefuss muscular dystrophy
  • facioscapulohumeral muscular dytrophy
  • distal myopathy
  • myotonic dystrophy
  • proximal myotonic myopathy
  • oculopharyngeal muscular dystrophy
• metabolic myopathy
  • glycogen storage disease
  • lipid storage disease
  • mitochondrial myopathy

More general terms

• genetic disease
• muscular disease; myopathy
• chronic musculoskeletal disease

More specific terms

• acute recurrent rhabdomyolysis; autosomal recessive acute recurrent myoglobinuria (ARARM)
• Bethlem myopathy
• Brody myopathy
• central core disease of muscle (CCD)
• Compton-North congenital myopathy
• congenital fibrosis of extraocular muscles
• congenital myopathy due to ITGA7 defect
• congenital myopathy with excess of thin myofilaments
• congenital myopathy with fiber-type disproportion
• CRYAB-related myofibrillar myopathy; myofibrillar myopathy fatal infantile hypertonic CRYAB; myofibrillar myopathy fatal infantile hypertonic alpha-B crystallin-related
• desmin-related myofibrillar myopathy; desmin-related cardioskeletal myopathy
• dystonia juvenile-onset
• dystonia type 16
• familial myasthenia gravis
• familial periodic paralysis (hyperkalemic, normokalemic, hypokalemic, HYPP, NKPP, HYPOPP)
• hereditary myopathy with early respiratory failure; Edstrom myopathy (HMERF)
• inclusion body myopathy
• Laing early-onset distal myopathy
• multiminicore disease with external ophthalmoplegia (MMDO, MMD)
• muscular dystrophy
• myoclonic dystonia; alcohol-responsive dystonia; dystonia-11
• myopathy due to phosphoglycerate mutase deficiency (PGAMM deficiency)
• myopathy SEPN-related
• myopathy with lactic acidosis & sideroblastic anemia; mitochondrial myopathy & sideroblastic anemia (MLASA)
• myosclerotic myopathy; myosclerosis autosomal recessive; myosclerosis of Lowenthal
• myosin storage myopathy
• myotilinopathy
• myotonia congenita; Thomsen disease; Becker disease; myotonia levior
• myotubular myopathy (centronuclear myopathy)
• nemaline myopathy (rod myopathy)
• Nonaka distal myopathy
• paramyotonia congenita of von Eulenburg (PMC)
• progressive lower motor neuron disease (PLMND)
• progressive pseudorheumatoid arthropathy of childhood
• reducing body myopathy
• scapuloperoneal myopathy (scapuloperoneal syndrome myopathic type)
• spheroid body myopathy
• torsion dystonia 1 (primary or idiopathic dystonia)
• X-linked myopathy with postural muscle atrophy (XMPMA)
• ZASP-related myofibrillar myopathy