Which histologic findings are characteristic of limb-girdle muscular dystrophy (LGMD)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Examples of histologic findings are depicted in the images below.

Top: Photomicrograph shows normal alpha-sarcoglyca Top: Photomicrograph shows normal alpha-sarcoglycan staining of a myopathic biopsy specimen. Note dark staining around the rims of the muscle fibers. Bottom: Alpha-sarcoglycan stain of a muscle biopsy specimen from a patient with alpha-sarcoglycan deficiency. Note the absence of staining at the rims of the muscle fibers. Patterns of staining similar to these are observed in all the sarcoglycanopathies, dysferlinopathy, calpainopathy and limb-girdle muscular dystrophy type 2I (LGMD2I, Fukutin-related proteinopathy). However, staining may be variably reduced or absent.
Gomori trichrome–stained section in patient with m Gomori trichrome–stained section in patient with myofibrillar myopathy. Note the abnormal accumulations of blue-red material in several muscle fibers.
Immunohistochemical staining by using an anti-desm Immunohistochemical staining by using an anti-desmin antibody in a patient with a myofibrillar myopathy. Courtesy of Alan Pestronk.

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