Which histologic findings are characteristic of congenital muscular dystrophy (CMD) with laminin-?2 deficiency?

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

Congenital muscular dystrophy with laminin-α2 deficiency

  • Complete laminin-α2 deficiency

    • Patients may have severe dystrophic pathology with muscle-fiber degeneration and regeneration, fiber necrosis, and endomysial and perimysial fibrosis.

    • Mononuclear cell infiltrates may be present in biopsy samples obtained from infants.

    • Immunohistochemical studies show complete loss of staining for laminin-α2.

    • Antibodies must be used against both the 300- and 80-kd subunits.

    • α-dystroglycan staining is also absent.

    • Approximately 95% of biopsy samples with absent laminin-α2 staining have a mutation in the LAMA2 gene.

  • Partial laminin-α2 deficiency

    • Mild myopathic features often occur with little or no necrosis.

    • Partial staining for laminin-α2 may be seen in patients with laminin-α2-deficient congenital muscular dystrophy and in those with any congenital muscular dystrophy associated with a glycosyltransferase enzyme deficiency.


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