Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome |
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| Authors: | Michael Kottlors MD Wolfram Kress MD Gerhard Meng PhD Franz X. Glocker MD |
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| Affiliation: | 1. Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany;2. Institute of Human Genetics, University of Würzburg, Würzburg, Germany;3. Department of Neurology, University Medical Center Freiburg, Breisacherstrasse 64, 79106 Freiburg, Germany |
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| Abstract: | Several subtypes of facioscapulohumeral muscular dystrophy (FSHD) with atypical clinical presentation have been described. We report a new, distinct phenotype with progressive bent spine syndrome solely affecting the paraspinal muscles. Magnetic resonance imaging study of the lumbar spine revealed marked atrophy of the paraspinal muscles. The diagnosis was confirmed by DNA testing, which revealed shortened restriction fragments of the D4Z4 repeat on haplotype A in connection with a positive family history. Muscle Nerve 42:273–275, 2010 |
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| Keywords: | axial myopathy camptocormia facioscapulohumeral muscular dystrophy bent spine syndrome paraspinal muscular atrophy |
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