Neuromuscular Disorders

Rafael Valenti-Azcarate, Ines Esparragosa Vazquez, Carlos Toledano Illan, Miguel Angel Idoate Gastearena, Jaime Gállego Pérez-Larraya November 4, 2019

Immune-checkpoint inhibitors (ICIs) are novel therapeutic agents that have demonstrated relevant anti-tumor responses in multiple cancer types. They produce a potentiation of the immune response against the cancer by blocking the negative down-regulation of T cells. Checkpoint inhibitor-associated neurological side effects are rare but also potentially life-threatening [1].… Read More...

Alberto Romano, Martina Favetta, Tommaso Schirinzi, Susanna Summa, Silvia Minosse, Michela Catteruccia, Maurizio Petrarca, Enrico Castelli, Enrico Bertini, Gessica Vasco November 4, 2019

Duchenne Muscular Dystrophy (DMD) is a severe X-linked degenerative muscular disorder that affects approximately 1:3500 males born alive [1–3]. DMD is caused by mutations in the gene coding for dystrophin, a muscle cytoskeletal membrane protein. The loss of dystrophin function causes progressive loss of functional muscle mass and replacement with fibro-fatty tissue [4].… Read More...

Laurent Servais, Chiara S M Straathof, Ulrike Schara, Andrea Klein, Mika Leinonen, Shabir Hasham, Thomas Meier, Liesbeth De Waele, Heather Gordish-Dressman, Craig M McDonald, Oscar H Mayer, Thomas Voit, Eugenio Mercuri, Gunnar M Buyse, for the SYROS and CINRG DNHS Investigators November 4, 2019

Duchenne muscular dystrophy (DMD) is characterized by relentlessly progressive muscle weakness leading to loss of motor function, cardiomyopathy, progressive spinal abnormality, respiratory function decline and death in early adulthood [1, 2]. Respiratory function decline, a predominant cause of early mortality in DMD, results from the underlying weakness and degeneration of the respiratory muscle groups, notably the diaphragm, the intercostal and chest wall muscles, leading to impaired respiratory muscle strength.… Read More...

Sophelia HS Chan, Ronnie SL Ho, PL Khong, Brian HY Chung, Mandy HY Tsang, Mullin HC Yu, Matthew CW Yeung, Angel OK Chan, CW Fung November 4, 2019

Megaconial congenital muscular dystrophy (CMD)(OMIM #602541) was initially described as a distinct muscle pathology associated with congenital muscular dystrophy in a 1998 report on four Japanese patients from three unrelated families by Nishino et al. [1]. The characteristic clinical features of Megaconial CMD include neonatal hypotonia and developmental delays without brain malformation.… Read More...

Andrew L. Mammen, Yves Allenbach, Werner Stenzel, Olivier Benveniste, ENMC 239th Workshop Study Group October 25, 2019

Organizers of this 239th ENMC workshop welcomed 22 participants from 12 countries worldwide (Belgium, Canada, China, the Czech Republic, France, Germany, Japan, The Netherlands, Spain, Sweden, the United Kingdom, and the United States of America) to Amsterdam on 14-16 December 2018 for this workshop on the clinicopathological classification of dermatomyositis (DM).… Read More...

Susanna B. Park, Paola Alberti, Noah A. Kolb, Jennifer S. Gewandter, Angelo Schenone, Andreas A. Argyriou October 24, 2019

Abstract

Chemotherapy‐induced peripheral neurotoxicity (CIPN) is a major toxicity of cancer treatment, leading to dose reduction and premature treatment cessation, potentially affecting patient function, and quality of life. The development of accurate and sensitive assessment tools for CIPN is essential to enable clinical monitoring during treatment, follow‐up of long‐term outcomes and measurement of toxicity in clinical trials.… Read More...

Badrul Islam, Maryam Lustberg, Nathan P. Staff, Noah Kolb, Paola Alberti, Andreas A. Argyriou October 24, 2019

Abstract

Vinca alkaloids, thalidomide, and eribulin are widely used to treat patients with childhood acute lymphoblastic leukemia (ALL), adults affected by multiple myeloma and locally invasive or metastatic breast cancer, respectively. However, soon after their introduction into clinical practice, chemotherapy‐induced peripheral neurotoxicity (CIPN) emerged as their main non‐hematological and among dose‐limiting adverse events.… Read More...

Nathan P. Staff, Guido Cavaletti, Badrul Islam, Maryam Lustberg, Dimitri Psimaras, Stefano Tamburin October 24, 2019

Abstract

Platinum‐induced peripheral neurotoxicity (PIPN) is a common side effect of platinum‐based chemotherapy that may cause dose reduction and discontinuation, with oxaliplatin being more neurotoxic. PIPN includes acute neurotoxicity restricted to oxaliplatin, and chronic non‐length‐dependent sensory neuronopathy with positive and negative sensory symptoms and neuropathic pain in both upper and lower limbs.… Read More...

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