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Skeletal Radiology

, Volume 37, Issue 1, pp 43–48 | Cite as

Muscle sonography in six patients with hereditary inclusion body myopathy

  • Ronald S. AdlerEmail author
  • Giovanna Garolfalo
  • Stephen Paget
  • Lawrence Kagen
Scientific Article

Abstract

Objective

To evaluate the morphological changes of muscle with sonography in six patients affected by hereditary inclusion body myopathy (HIBM).

Materials and methods

We studied a group of six Persian Jews diagnosed with HIBM. All were homozygous for the GNE mutation M712T. Ultrasonographic examinations of the quadriceps femoris and hamstring muscle groups were performed. A follow-up ultrasound examination was performed, after an interval of 3 years, in four of these patients. Muscles were assessed subjectively as to echogenicity, determined by gray-scale assessment, and loss of normal muscle morphology. Power Doppler sonography (PDS) was used to assess vascularity.

Results

A sonographic finding of central atrophy and peripheral sparing resulting in a target-like appearance was noted in the hamstring compartment of all six patients. The quadriceps compartment also showed involvement of the rectus femoris of all patients, which, in some cases, was the only muscle involved in the quadriceps. Vascularity was markedly reduced in the affected areas, with blood flow demonstrated in the peripherally spared areas. The severity of atrophy increased with disease duration.

Conclusion

In this case series, we describe a new sonographic finding as well as document progression of HIBM disease, which has generally been described as quadriceps sparing. The myopathic target lesion, as well as isolated rectus femoris atrophy, may provide a useful adjunct to disease diagnosis.

Keywords

Sonography Myopathy Inclusion body Genetic mutation Target sign 

Notes

Acknowledgments

We thank Professor S. Rafii and Dr. D. Darvish for critical ideas and for providing a patients’ list.

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Copyright information

© ISS 2007

Authors and Affiliations

  • Ronald S. Adler
    • 1
    Email author
  • Giovanna Garolfalo
    • 2
  • Stephen Paget
    • 3
  • Lawrence Kagen
    • 3
  1. 1.Division of Ultrasound & Body Imaging, Hospital for Special SurgeryWeill Medical College of Cornell UniversityNew YorkUSA
  2. 2.Ospedale Residenza Sanitaria RiabilitativaFermoItaly
  3. 3.Rheumatology Division, Hospital for Special SurgeryWeill Medical College of Cornell UniversityNew YorkUSA

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