School of Myology - Workshop - Class 2002

Case No.4

Clinical Setting

Male adult. 30 yo. Exercise intolerance.

Pathology

Microscopy

HE and Gomori stain demonstrate dystrophic changes (fibrosis, necrosis, regeneration)

Immunohistochemistry disclosed deficiency in the expression of alpha and gamma-sarcoglycan, confirmed by western blotting, and further genetic testing.

Proposed diagnosis

Alpha-sarcoglycanopathy consistent with a Limb Girdle Muscular Dystrophy (LGMD 2D).

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