S M Sandell1, I Mahjneh, J Palmio, G Tasca, E Ricci, B A Udd. 1. Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland; Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland.
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.
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.
Authors: Alessandra Ruggieri; Francesco Brancati; Simona Zanotti; Lorenzo Maggi; Maria Barbara Pasanisi; Simona Saredi; Chiara Terracciano; Carlo Antozzi; Maria Rosaria D Apice; Federica Sangiuolo; Giuseppe Novelli; Christian R Marshall; Stephen W Scherer; Lucia Morandi; Luca Federici; Roberto Massa; Marina Mora; Berge A Minassian Journal: Acta Neuropathol Commun Date: 2015-07-25 Impact factor: 7.801
Authors: Alessandra Ruggieri; Simona Saredi; Simona Zanotti; Maria Barbara Pasanisi; Lorenzo Maggi; Marina Mora Journal: Front Mol Biosci Date: 2016-09-30
Authors: Saeed A Bohlega; Sarah Alfawaz; Hussam Abou-Al-Shaar; Hindi N Al-Hindi; Hatem N Murad; Mohamed S Bohlega; Brian F Meyer; Dorota Monies Journal: Acta Myol Date: 2018-09-01