Genetic Disease Of Muscle

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Etiology 3 More General Terms 4 References

More Specific Terms

• acute recurrent rhabdomyolysis; autosomal recessive acute recurrent myoglobinuria (ARARM)
• Brody myopathy
• central core disease of muscle (CCD)
• Compton-North congenital myopathy
• congenital myopathy due to ITGA7 defect
• congenital myopathy with excess of thin myofilaments
• congenital myopathy with fiber-type disproportion
• desmin-related myofibrillar myopathy; desmin-related cardioskeletal myopathy
• dystonia juvenile-onset
• 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
• malignant hyperthermia susceptibility/hyperthermia of anesthesia
• 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)
• myosin storage myopathy
• myotilinopathy
• myotonia congenita; Thomsen disease; Becker disease; myotonia levior
• 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

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

References

- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009 genetic disease of muscle (inherited myopathy)