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Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.

ABSTRACT: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity.Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD; and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared with muscle strength and function.The analysis revealed a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10-meter walk times.Advances in MRI technology allow for acquisition of rapid, high-quality, whole-body imaging in diffuse muscle disease. This technique offers a promising disease biomarker in FSHD and other muscle diseases.

SUBMITTER: Leung DG

PROVIDER: S-EPMC4504833 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.

Leung Doris G DG Carrino John A JA Wagner Kathryn R KR Jacobs Michael A MA

Muscle & nerve 20150331 4

<h4>Introduction</h4>Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity.<h4>Methods</h4>Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD; and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltra ...[more]

PMID: 25641525

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Project description:BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease.MethodsHistopathology, gene expression profiling and real time PCR were performed on biopsies from FSHD muscles with different MRI pattern (T1-weighted normal/T2-STIR normal and T1-weighted normal/T2-STIR hyperintense). Data were compared with those from inflammatory myopathies, dysferlinopathies and normal controls. In order to validate obtained results, two additional FSHD samples with different MRI pattern were analyzed.ResultsMyopathic and inflammatory changes characterized T2-STIR hyperintense FSHD muscles, at variance with T2-STIR normal muscles. These two states could be easily distinguished from each other by their transcriptional profile. The comparison between T2-STIR hyperintense FSHD muscles and inflammatory myopathy muscles showed peculiar changes, although many alterations were shared among these conditions.ConclusionsAt the single muscle level, different stages of the disease correspond to the two MRI patterns. T2-STIR hyperintense FSHD muscles are more similar to inflammatory myopathies than to T2-STIR normal FSHD muscles or other muscular dystrophies, and share with them upregulation of genes involved in innate and adaptive immunity. Our data suggest that selective inflammation, together with perturbation in biological processes such as neoangiogenesis, lipid metabolism and adipokine production, may contribute to the sequential bursts of muscle degeneration that involve individual muscles in an asynchronous manner in this disease.

Dataset Information

Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.

Publications

Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.

Similar Datasets

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