Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data

Courtney R Carlson; Steven A Moore; Katherine D Mathews

doi:10.1002/mus.26083

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Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data

Journal article

Peer reviewed

Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data

Courtney R Carlson, Steven A Moore and Katherine D Mathews

Muscle & nerve, Vol.58(1), pp.149-153

01/24/2018

DOI: 10.1002/mus.26083

PMCID: PMC6057846

PMID: 29365344

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Abstract

Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in the dystrophin gene (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 neuronal nitric oxide synthase. 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. 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.

Duchenne-Becker muscular dystrophy

diagnosis

dystrophinopathy

pathology

indication

muscle biopsy

Details

Title: Subtitle: Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data
Creators: Courtney R Carlson - University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
Steven A Moore - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Katherine D Mathews - Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA
Resource Type: Journal article
Publication Details: Muscle & nerve, Vol.58(1), pp.149-153
DOI: 10.1002/mus.26083
PMID: 29365344
PMCID: PMC6057846
NLM abbreviation: Muscle Nerve
ISSN: 0148-639X
eISSN: 1097-4598
Publisher: United States
Grant note: T35 HL007485 / NHLBI NIH HHS U54 NS053672 / NINDS NIH HHS
Language: English
Date published: 01/24/2018
Academic Unit: Neurology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984046801802771

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