genetic disease of muscle (inherited myopathy)

Etiology: 1) congenital a) central core disease b) nemaline myopathy c) centronuclear myopathy d) myofibrillar myopathy e) congenital fiber-type disproportion myopathy 2) muscular dystrophy a) limb-girdle muscular dystrophy b) Duchenne muscular dystrophy c) Becker muscular distrophy d) Emery-Driefuss muscular dystrophy e) facioscapulohumeral muscular dytrophy f) distal myopathy g) myotonic dystrophy h) proximal myotonic myopathy i) oculopharyngeal muscular dystrophy 3) metabolic myopathy a) glycogen storage disease b) lipid storage disease c) mitochondrial myopathy

Specific

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

General

chronic musculoskeletal disease genetic disease muscular disease; myopathy

References

- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009