Journal of Neurology

, Volume 257, Issue 7, pp 1108–1118

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

  • Peter Reilich
  • Nicolai Schramm
  • Benedikt Schoser
  • Peter Schneiderat
  • Nicola Strigl-Pill
  • Josef Müller-Höcker
  • Wolfram Kress
  • Andreas Ferbert
  • Sabine Rudnik-Schöneborn
  • Johannes Noth
  • Hanns Lochmüller
  • Joachim Weis
  • Maggie C. Walter
Original Communication

DOI: 10.1007/s00415-010-5471-1

Cite this article as:
Reilich, P., Schramm, N., Schoser, B. et al. J Neurol (2010) 257: 1108. doi:10.1007/s00415-010-5471-1

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.

Keywords

Facioscapulohumeral muscular dystrophyPhenotypeVacuolar myopathyRimmed vacuolesFilamentous inclusions

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Peter Reilich
    • 1
  • Nicolai Schramm
    • 2
  • Benedikt Schoser
    • 1
  • Peter Schneiderat
    • 1
  • Nicola Strigl-Pill
    • 1
  • Josef Müller-Höcker
    • 3
  • Wolfram Kress
    • 4
  • Andreas Ferbert
    • 5
  • Sabine Rudnik-Schöneborn
    • 6
  • Johannes Noth
    • 7
  • Hanns Lochmüller
    • 8
  • Joachim Weis
    • 9
  • Maggie C. Walter
    • 1
  1. 1.Friedrich-Baur-Institute, Department of NeurologyLudwig Maximilian University of MunichMunichGermany
  2. 2.Department of Clinical RadiologyLudwig Maximilian UniversityMunichGermany
  3. 3.Department of PathologyLudwig Maximilian UniversityMunichGermany
  4. 4.Institute for Human GeneticsUniversity of WürzburgWürzburgGermany
  5. 5.Department of NeurologyKlinikum KasselKasselGermany
  6. 6.Institute of Human Genetics, Medical FacultyRWTH Aachen UniversityAachenGermany
  7. 7.Department of Neurology, Medical FacultyRWTH Aachen UniversityAachenGermany
  8. 8.Institute of Human GeneticsNewcastle UniversityNewcastle upon TyneUK
  9. 9.Institute of Neuropathology, Medical FacultyRWTH Aachen UniversityAachenGermany