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Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically confirmed FSHD patients exhibit unspecific morphological signs of a degenerative myopathy. We report on five unrelated patients who carried the pathogenic FSHD mutation on chromosome 4q35. Muscle biopsies revealed numerous rimmed vacuoles and filamentous cytoplasmic inclusions in all cases. Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles.

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Acknowledgments

We wish to thank all patients and their families for participation in this study. We thank M. Schmuck for technical assistance. Parts of this study were supported by Grifols Deutschland GmbH (Langen, Germany) and the IZKF Biomat of the RWTH Aachen (grant no. TV M3). PR, PS, JW, BS, WK, HL, and MCW are members of the German network on muscular dystrophies (MD-NET, 01GM0887) funded by the German Federal Ministry of Education and Research (BMBF, Bonn, Germany). MD-NET is a partner of TREAT-NMD (EC, 6th FP, proposal no. 036825). Parts of the study were supported by grants for the DGF FOR 1228 (BS, JS, MCW).

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Authors and Affiliations

  1. Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr. 1, 80336, Munich, Germany

    Peter Reilich, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill & Maggie C. Walter

  2. Department of Clinical Radiology, Ludwig Maximilian University, Munich, Germany

    Nicolai Schramm

  3. Department of Pathology, Ludwig Maximilian University, Munich, Germany

    Josef Müller-Höcker

  4. Institute for Human Genetics, University of Würzburg, Würzburg, Germany

    Wolfram Kress

  5. Department of Neurology, Klinikum Kassel, Kassel, Germany

    Andreas Ferbert

  6. Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

    Sabine Rudnik-Schöneborn

  7. Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany

    Johannes Noth

  8. Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK

    Hanns Lochmüller

  9. Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany

    Joachim Weis

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  1. Peter Reilich
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  2. Nicolai Schramm
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  3. Benedikt Schoser
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  11. Hanns Lochmüller
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  12. Joachim Weis
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  13. Maggie C. Walter
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Correspondence to Maggie C. Walter.

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J. Weis and M. C. Walter contributed equally to this paper.

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Reilich, P., Schramm, N., Schoser, B. et al. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 257, 1108–1118 (2010). https://doi.org/10.1007/s00415-010-5471-1

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  • DOI: https://doi.org/10.1007/s00415-010-5471-1

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