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Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies

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Abstract

Magnetic resonance imaging (MRI) of muscles has recently become a significant diagnostic procedure in neuromuscular disorders. There is a lack of muscle MRI studies in patients with myotonic dystrophy type 1 (DM1), especially type 2 (DM2). To analyze fatty infiltration of leg muscles, using 3.0 T MRI in patients with genetically confirmed DM1 and DM2 with different disease durations. The study comprised 21 DM1 and 10 DM2 adult patients. Muscle MRI was performed in axial plane of the lower limbs using T1-weighted (T1w) sequence. Six-point scale by Mercuri et al. was used. Fatty infiltration registered in at least one muscle of lower extremities was found in 71% of DM1 and 40% of DM2 patients. In DM1 patients, early involvement of the medial head of gastrocnemius and tibialis anterior muscles was observed with later involvement of other lower leg muscles and of anterior and posterior thigh compartments with relative sparing of the rectus femoris. In DM2, majority of patients had normal MRI findings. Early involvement of lower legs and posterior thighs was found in some patients. Less severe involvement of the medial head of the gastrocnemius compared to other lower leg muscles was also observed, while involvement of proximal muscles was rather diffuse than selective. It seems that both in DM1 and DM2 some muscles may be affected before weakness is clinically noted and vice versa. We described characteristic pattern and way of progression of muscle involvement in DM1 and DM2.

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Abbreviations

DM1:

Myotonic dystrophy type 1

DM2:

Myotonic dystrophy type 2

EMG:

Electromyography

MIRS:

Muscle Impairment Rating Scale

MRC:

Medical Research Council

MRI:

Muscle resonance imaging

PDW:

Proton density weighted

T1w:

T1-weighted

T2w:

T2-weighted

TR-PCR:

Triplet repeat primed polymerase chain reaction

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Acknowledgements

This study was supported by the Ministry of Education, Science and Technological Development of Serbia granted to V.R.S. (Grant # 175083).

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Authors and Affiliations

  1. Neurology Clinic, Clinical Centre of Serbia, School of Medicine, University of Belgrade, 6, Dr Subotica Street, Belgrade, 11000, Serbia

    Stojan Peric, Bogdan Bjelica, Ivo Bozovic, Yunus Balcik & Vidosava Rakocevic-Stojanovic

  2. Centre for Radiology and Magnetic Resonance Imaging, Clinical Centre of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia

    Ruzica Maksimovic, Bojan Banko & Milica Durdic

  3. Faculty of Biology, Centre for Human Molecular Genetics, University of Belgrade, Belgrade, Serbia

    Jovan Pesovic & Dusanka Savic-Pavicevic

Authors
  1. Stojan Peric
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  2. Ruzica Maksimovic
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  3. Bojan Banko
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  4. Milica Durdic
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  5. Bogdan Bjelica
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  6. Ivo Bozovic
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  7. Yunus Balcik
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  8. Jovan Pesovic
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  9. Dusanka Savic-Pavicevic
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  10. Vidosava Rakocevic-Stojanovic
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Corresponding author

Correspondence to Vidosava Rakocevic-Stojanovic.

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Peric, S., Maksimovic, R., Banko, B. et al. Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies. J Neurol 264, 1899–1908 (2017). https://doi.org/10.1007/s00415-017-8574-0

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  • DOI: https://doi.org/10.1007/s00415-017-8574-0

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