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Published on: July 15, 2014
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data
Courtney R Carlson1, Steven A Moore2, Katherine D Mathews3
1University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Introduction:
Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in the dystrophin gene (DMD) and is often the preferred diagnostic approach.
Methods:
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 neuronal nitric oxide synthase.
Results:
The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Among 2,298 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.
Discussion:
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 results. Muscle Nerve, 2018.
