caa a22 4500 445810165 CHVBK 20180317145209.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s00415-010-5858-z doi (NATIONALLICENCE)springer-10.1007/s00415-010-5858-z Camptocormia phenotype of FSHD: a clinical and MRI study on six patients [Elektronische Daten] [Berit Jordan, Katharina Eger, Sabrina Koesling, Stephan Zierz] Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement. Springer-Verlag, 2010 FSHD nationallicence Camptocormia nationallicence Muscle MRI nationallicence Bent spine nationallicence Axial myopathy nationallicence Jordan Berit Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut Eger Katharina Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut Koesling Sabrina Department of Radiology/Neuroradiology, Martin-Luther-University of Halle-Wittenberg, Halle/Saale, Germany aut Zierz Stephan Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut Journal of Neurology Springer-Verlag 258/5(2011-05-01), 866-873 0340-5354 258:5<866 2011 258 415 https://doi.org/10.1007/s00415-010-5858-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-010-5858-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jordan Berit Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut NATIONALLICENCE 700 1- Eger Katharina Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut NATIONALLICENCE 700 1- Koesling Sabrina Department of Radiology/Neuroradiology, Martin-Luther-University of Halle-Wittenberg, Halle/Saale, Germany aut NATIONALLICENCE 700 1- Zierz Stephan Department of Neurology, Martin-Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle/Saale, Germany aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/5(2011-05-01), 866-873 0340-5354 258:5<866 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer