Spierziekten

The Muscular Dystrophies:

1. Duchenne Muscular Dystrophy
   
   Synoniemen: DMD
   
   OMIM: 310200
   
   OMIM: Clinical Synopsis
   
   Who named it?:  Guillaume Benjamin Amand Duchenne de Boulogne
   
   MDA: Duchenne Muscular Dystrophy
   
   VSN: De ziekte van Duchenne
   
   e-Medicine: Muscular Dystrophy
   
   
    
2. Becker Muscular Dystrophy
   
   Synoniemen: BMD
   
   OMIM: 300376
   
   Who named it?:   Peter Emil Becker
   
   e-Medicine: Becker Muscular Dystrophy
   
   MDA: Becker Muscular Dystrophy (BMD)
   
   VSN: Becker spierdystrofie
   
   
    
3. X-Linked Emery-Dreifuss Muscular Dystrophy
   
   OMIM: 310300
   
   OMIM: Clinical Synopsis
   
   who named it?:   Alan Eglin Heathcote Emery   ;   Fritz Emanuel Dreifuss
   
   e-Medicine: Emery-Dreifuss Muscular Dystrophy
   
   MDA: Emery-Dreifuss Muscular Dystrophy
   
   VSN: Emery-Dreifuss spierdystrofie
   
   
    
4. Autosomal Dominant Emery-Dreifuss Muscular Dystrophy  ( EDMD2 )
   
   OMIM: 181350
   
   OMIM: Clinical Synopsis
   
   
    
5. Autosomal recessive Emery-Dreifuss Muscular Dystrophy ( EDMD3 )
   
   OMIM: 604929
   
   OMIM: Clinical Synopsis
   
   
    
6. Classic Congenital Myotonic Dystrophy
   
   OMIM: 156225
   
   MDA: Congenital Myotonic Dystrophy
   
    
7. Fukuyama congenital muscular dystrophy
   
   OMIM: 253800
   
   OMIM: Clinical Synopsis
   
   
    
8. Oculopharyngeal Muscular Dystrophy  ( OPMD )  ( Shy-Gonatas Syndrome )
   
   OMIM: 164300
   
   OMIM: Clinical Synopsis
   
   Who named it?: Nicholas K. Gonatas   ;   George Milton Shy
   
   MDA: Oculopharyngeal Muscular Dystrophy
   
   GeneReviews: Oculopharyngeal Muscular Dystrophy
   
   VSN: Oculopharyngeale Spierdystrofie
   
   
    
9. Facioscapulohumeral Muscular Dystrophy  ( Landouzy-Dejerine Muscular Dystrophy )
   
   OMIM: 158900
   
   OMIM: Clinical Synopsis
   
   Who named it?:   Louis Théophile Joseph Landouzy   ;  Joseph Jules Dejerine
   
   VSN: Facioscapulohumerale dystrofie
   
   MDA: Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)
   
   GeneReviews:  Facioscapulohumeral muscular dystrophy (FSHD)
   
   
    
10. Limb Girdle Muscular Dystrophy
    
    VSN: Limb-girdle spierdystrofie
    
    MDA: Limb-Girdle Muscular Dystrophy (LGMD)
    
    GeneReviews: Limb-girdle muscular dystrophy (LGMD)
    
    e-Medicine: Limb-girdle muscular dystrophy (LGMD)
     

Myotonic dystrophy:

1. Myotonic Dystrophy 1  ( Steinert Disease )
   
   OMIM: 160900
   
   OMIM: Clinical Synopsis
   
   Who named it?:   Hans Gustav Wilhelm Steinert
   
   MDA: Myotonic Muscular Dystrophy (MMD)
   
   VSN: Myotone dystrofie
   
   GeneReviews: Myotonic Dystrophy
   
   
    
2. Proximal myotonic myopathy ( PROMM; Myotonic Dystrophy 2; Ricker syndrome )
   
   OMIM: 602688
   
   OMIM: Clinical Synopsis
   
   
    
3. Myotonia congenita   ( Thomsen disease )
   
   OMIM: 160800
   
   OMIM: Clinical Synopsis
   
   VSN: Thomsen myotonie
   
   
    
4. Paramyotona congenita of von Eulenberg; PMC
   
   OMIM: 168300
   
   OMIM: Clinical Synopsis
   
   
    
5. hypokalemic periodic paralysis (HOKPP)
   
   OMIM: 170400
   
   OMIM: Clinical Synopsis
   
   
    
6. hyperkalemic periodic paralysis (HYPP)
   
   OMIM: 170500
   
   OMIM: Clinical Synopsis
   
   
    
7. Chondrodystrophic myotonia ( Schwarz-Jampel Syndrome )
   
   OMIM: 255800
   
   OMIM: Clinical Synopsis
   
   Who named it?:   Oscar Schwartz   ;  Robert Steven Jampel
   
   e-Medicine: Schwarz-Jampel syndrome

 

 

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