The Muscular
Dystrophies:
- 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
- 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
- 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
- Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy ( EDMD2 )
OMIM:
181350
OMIM:
Clinical Synopsis
- Autosomal recessive
Emery-Dreifuss Muscular Dystrophy ( EDMD3 )
OMIM:
604929
OMIM:
Clinical Synopsis
- Classic Congenital
Myotonic Dystrophy
OMIM:
156225
MDA:
Congenital Myotonic Dystrophy
- Fukuyama congenital
muscular dystrophy
OMIM:
253800
OMIM:
Clinical Synopsis
- 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
- 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)
- 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:
- 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
-
Proximal myotonic myopathy ( PROMM;
Myotonic Dystrophy
2; Ricker syndrome )
OMIM:
602688
OMIM:
Clinical Synopsis
-
Myotonia congenita ( Thomsen disease )
OMIM:
160800
OMIM:
Clinical Synopsis
VSN:
Thomsen myotonie
- Paramyotona congenita
of von Eulenberg; PMC
OMIM:
168300
OMIM:
Clinical Synopsis
- hypokalemic periodic
paralysis (HOKPP)
OMIM:
170400
OMIM:
Clinical Synopsis
- hyperkalemic periodic
paralysis (HYPP)
OMIM:
170500
OMIM:
Clinical Synopsis
- 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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