Muscle sonography in six patients with hereditary inclusion body myopathy. Academic Article uri icon

Overview

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.

publication date

  • October 26, 2007

Research

keywords

  • Muscle, Skeletal
  • Muscular Atrophy
  • Myositis, Inclusion Body

Identity

Scopus Document Identifier

  • 36349012566

Digital Object Identifier (DOI)

  • 10.1007/s00256-007-0367-6

PubMed ID

  • 17962939

Additional Document Info

volume

  • 37

issue

  • 1