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


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.


CONCLUSIONS
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.
Adler
Ronald S
RS
Division of Ultrasound & Body Imaging, Hospital for Special Surgery, Weill Medical College of Cornell University, 535 East 70th Street, New York, NY 10021, USA. adlerr@hss.edu
Garolfalo
Giovanna
G
Paget
Stephen
S
Kagen
Lawrence
L
D000328:Adult; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging*; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000209:etiology; D018979:Myositis, Inclusion Body / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D015588:Observer Variation; D012720:Severity of Illness Index; D018608:Ultrasonography, Doppler / Q000379:methods