The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy |
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Authors: | Friedman Seth D Poliachik Sandra L Carter Gregory T Budech Christopher B Bird Thomas D Shaw Dennis W W |
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Institution: | Department of Radiology, Seattle Children's Hospital, 4800 Sandpoint Way, Room R4488, Seattle, Washington 98105, USA. sethfriedman@gmail.com |
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Abstract: | Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is associated with a repeat contraction in the D4Z4 gene locus on chromosome 4q35. We used a one‐step quantitative magnetic resonance imaging (MRI) method to evaluate muscle, edema, and fat in patients spanning the range of severity. Methods: Fifteen patients with FSHD were compared with 10 healthy subjects using non‐negative linear least‐squares fitting of 32‐echo relaxation data (T2). The results were compared with a biexponential approach for characterizing muscle/fat ratio and T2 relaxation measurements from fat‐suppressed inversion recovery. Results: Increased T2 signal consistent with edema was common in FSHD subjects, a pattern not present in healthy controls. A varied pattern of edema and fatty replacement in muscles was shown. Conclusions: As a discrete biomarker, edema may be useful for following the clinical course of FSHD. Future work toward optimizing measurement is discussed. Muscle Nerve, 2012 |
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Keywords: | edema fat image processing magnetic resonance muscle muscular dystrophy |
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