Which histologic findings are characteristic of glycotransferases in congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Glycotransferases (abnormal O-glycosylation of α-dystroglycan)

  • All of the α-dystroglycanopathies have similar muscle pathologies that differ in the degree of severity, which is likely correlated with the degree of preserved α-dystroglycan function.

  • Patients have muscle fiber degeneration and/or necrosis and regeneration, variability in muscle fiber size, and endomysial and/or perimysial fibrosis

  • Muscle tissue may look fairly normal in persons with muscle-eye-brain disease and with mutations in FKRP shortly after birth.

  • Immunohistochemical studies show decreased staining for α-dystroglycan, which is localized correctly to the muscle cell surface. Western blot studies show a decreased molecular weight of α-dystroglycan in affected patients. A secondary decrease in staining for laminin-α2 may be noted in some biopsy samples.


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