‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

Authors

  • S. M. Sandell,

    Corresponding author
    1. Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland
    2. Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland
    • Correspondence: S. Sandell, Department of Neurology, Seinäjoki Central Hospital, Hanneksenrinne 7, 60220 Seinäjoki, Finland (tel.: +358 6 415 4490; fax: +358 6 415 4297; e-mail: satu.sandell@epshp.fi).

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  • I. Mahjneh,

    1. Department of Neurology, Pietarsaari District Hospital, Pietarsaari, Finland
    2. Department of Neurology, University of Oulu, Oulu, Finland
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  • J. Palmio,

    1. Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland
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  • G. Tasca,

    1. Don Carlo Gnocchi Onlus Foundation, Rome, Italy
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  • E. Ricci,

    1. Institute of Neurology, Catholic University School of Medicine, Rome, Italy
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  • B. A. Udd

    1. Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland
    2. Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    3. Vaasa Central Hospital, Vaasa, Finland
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Abstract

Background and purpose

We have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family we identified more Finnish, Italian and US families with the same disease, ultimately confirmed by mutations in the same gene.

Methods

Of the total number of 28 examined Finnish and Italian patients 23 underwent lower limb muscle imaging.

Results

At the early stages of the disease fatty degeneration in T1-weighed MRI sequences were observed in the soleus, adductor magnus, semimembranosus and biceps femoris muscles followed by medial gastrocnemius, adductor longus and later by vasti muscles of the quadriceps. Rectus femoris, lateral gastrocnemius, sartorius, gracilis and the anterolateral group of the lower leg muscles were spared until late senecence. The pattern of differential involvement could be identified at different stages of the disease process.

Conclusions

Since the general clinical findings do not provide clues for diagnosis this distinct pattern of muscle involvement and pathognomonic imaging findings are highly relevant in the clinical setting. The pattern of muscle involvement is so typical that it can be used as a differential diagnostic tool for LGMD1D. The final diagnosis however requires molecular genetic confirmation.

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