Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in DMD and is often the preferred diagnostic approach.
We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopathy based on dystrophic histopathology and abnormal immunofluorescence staining: reduced to absent dystrophin, expression of utrophin, and loss of nNOS.
The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Of 2298 biopsies evaluated between 2011 and 2016, 72 (3.1%) had pathologic features of dystrophinopathy. Median age at biopsy was 8 years (range 0.66-84). Half had undergone DMD genetic testing prior to biopsy. Clinical phenotypes recorded on requisitions were typical of muscular dystrophy for 57 (79%) biopsies.
Muscle biopsy continues to play an important role in the diagnosis of dystrophinopathy, particularly in patients with later symptom onset, comorbidities, or normal DMD genetic testing. This article is protected by copyright. All rights reserved.
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