Neuromuscular

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 (EMD1)

Affected male
Carrier female

Affected Males


H & E stain

 
Myopathy
  Bimodal variation of fiber size
    Small fibers: Rounded
    Large fibers: Hypertrophied
  Increased endomysial connective tissue
  Internal nuclei: Some fibers


H & E stain

 

Gomori trichrome stain

 
Chronic myopathy
  Varied fiber size
  Increased endomysial connective tissue
  Replacement of muscle by fat


ATPase ph 9.4 stain

 
Fiber type abnormalities
  Small type 1 (Left)
  Type 1 predominance (Right)


NADH stain

 
Abnormal internal architecture


Gomori trichrome stain

 

VvG stain

Congo red stain
Vacuoles in muscle fibers: In some patients



Emerin immunohistochemistry

Emerin immunohistochemistry
Emerin staining in normal muscle.
Muscle nuclei are stained, especially
  around their outer membrane.
No emerin staining in nuclei in EDMD muscle.


Manifesting Carrier (Female)



 

H & E stain

 
Muscle fiber size: Variable
Small fibers: Rounded; Occasional basophilic regenerating fiber
Large fibers: Hypertrophied.
Internal nuclei: Some fibers
Connective tissue: Mild increase

NADH

Gomori trichrome
Abnormal internal architecture


ATPase, pH 9.4

 
Fiber type disorder
  Most small fibers are type I
  Larger fibers are type I & II


Emerin immunohistochemistry
Only some nuclei stain for emerin.
Emerin staining of nuclei is non-random and patchy.
  Some muscle fibers have many nuclei with emerin.
  Other muscle fibers have no nuclei with emerin.



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11/14/2011