Article
Clinical Neurology
Audrey Parent, Laurent Ballaz, Bahare Samadi, Maria Vocos, Alain Steve Comtois, Annie Pouliot-Laforte
Summary: This study evaluated the differences in postural control performance and visual dependency between individuals with DM1 and asymptomatic individuals (AI). The results showed that individuals with DM1 had poorer postural control performance compared to AI, but their decrease in performance in the eyes-closed condition was similar to that of AI, suggesting no excessive visual dependency.
JOURNAL OF NEUROMUSCULAR DISEASES
(2022)
Article
Clinical Neurology
Kosuke Yamauchi, Tsuyoshi Matsumura, Hiroto Takada, Satoshi Kuru, Michio Kobayashi, Tomoya Kubota, En Kimura, Harumasa Nakamura, Masanori P. P. Takahashi
Summary: This study analyzed data from Japan's national registry to clarify the current treatment patterns and demographic features of Japanese DM patients. The study found differences in treatment patterns for DM1 in Japan compared with other countries, such as lower rates of use of implantable cardiac devices and higher rates of ventilator use. These findings may be useful in discussions aimed at standardizing medical care for DM patients.
Article
Biochemistry & Molecular Biology
Georgios K. Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos
Summary: This study retrospectively analyzed the medical records of 561 Greek patients with myotonic dystrophies. The findings show similarities in clinical and genetic characteristics between these patients and those from other regions. Muscle weakness is the first symptom in both types of myotonic dystrophies, while multisystemic involvement and cataracts are common manifestations. The study highlights the importance of specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Ju-Yeun Lee, Ha-Neul Jeong
Summary: This study investigated the incidence of DM1 and multi-organ involvement in the Korean population, finding that the incidence estimates of DM1 in Asians were lower than Caucasians. The study provides insight into the screening and treatment of systemic diseases related to DM1, aiding in understanding the current disease status and facilitating appropriate planning within the healthcare system.
JOURNAL OF NEUROLOGY
(2022)
Article
Public, Environmental & Occupational Health
Giuseppe Limongelli, Stefano Iucolano, Emanuele Monda, Pasquale Elefante, Chiara De Stasio, Imma Lubrano, Martina Caiazza, Marialuisa Mazzella, Fabio Fimiani, Maria Galdo, Giulia De Marchi, Martina Esposito, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Augusto Esposito, Ugo Trama, Salvatore Esposito, Gioacchino Scarano, Joseph Sepe, Generoso Andria, Valentina Orlando, Enrica Menditto, Paolo Chiodini
Summary: This study investigates the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the Covid-19 outbreak, and sheds light on problematic diagnoses during this period. The results show that the prevalence of new diagnoses of rare disease was significantly lower during the outbreak, and various issues such as lack of diagnostic resources and guidelines were identified.
JOURNAL OF PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Sarah J. Howe, David Ladipus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson
Summary: This study analyzed health insurance claims data to understand the clinical experience and healthcare costs associated with myotonic dystrophy (DM). The findings revealed that patients with DM had high healthcare resource utilization and costs, which increased over time. These insights can inform clinical care and the development of targeted therapies for this progressive disease.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Clinical Neurology
Marika Sugimoto, Satoshi Kuru, Hiroto Takada, Riho Horie, Kosuke Yamauchi, Tomoya Kubota, Tsuyoshi Matsumura, Harumasa Nakamura, En Kimura, Masanori P. Takahashi
Summary: A nationwide DM registry called Remudy has been developed in Japan, with 976 genetically confirmed DM patients enrolled. The majority of the patients have DM1, with a small percentage having the congenital form. Symptoms such as myotonia, hand disability, fatigue, and daytime sleepiness are commonly reported. Hand disability, constipation, and visual disturbances are more frequent in congenital DM patients.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Review
Gastroenterology & Hepatology
Ahmed B. Bayoumy, Jennifer Suzanne Gjertsen, Maarten E. Tushuizen
Summary: Myotonic dystrophy (MD) is a progressive genetic disorder characterized by muscle weakness and wasting. This case report presents a 32-year-old woman with MD1 who developed a sigmoid volvulus, which was treated with endoscopic decompression.
CASE REPORTS IN GASTROENTEROLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Isis B. T. Joosten, Romy van Lohuizen, Dennis W. den Uijl, Reinder Evertz, Bianca T. A. de Greef, Baziel G. M. van Engelen, Catharina G. Faber, Kevin Vernooy
Summary: This study aimed to determine ECG criteria predicting abnormal infrahissian conduction in patients with DM1, finding that a combination of prolonged PR interval and widened QRS complex accurately predicts delayed conduction. These criteria could be used as a screening tool to identify the need for referral to a specialized team with EPS capacity.
Article
Biochemistry & Molecular Biology
Nafisa Neault, Aymeric Ravel-Chapuis, Stephen D. Baird, John A. Lunde, Mathieu Poirier, Emiliyan Staykov, Julio Plaza-Diaz, Gerardo Medina, Francisco Abadia-Molina, Bernard J. Jasmin, Alex E. MacKenzie
Summary: Myotonic dystrophy type 1 (DM1) is caused by an abnormal expansion of CTG repeats in the DMPK gene. This expansion leads to misregulation of proteins and aberrant alternative splicing of mRNAs, resulting in DM1 pathogenesis. Vorinostat, an HDAC inhibitor, has been identified as a promising therapy for DM1, as it reduces RNA foci and improves spliceopathy in patient cells and mouse models.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Manami Hama, Riho Horie, Tomoya Kubota, Tsuyoshi Matsumura, En Kimura, Harumasa Nakamura, Masanori P. Takahashi, Hiroto Takada
Summary: Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, affecting multiple organs, but metabolic disturbances, such as liver dysfunction, dyslipidemia, and impaired glucose tolerance, are less explored despite their significant prevalence in DM1 patients. More research and management strategies are needed in this area.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Pediatrics
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
Summary: This study examined the prevalence and progression of cardiac disease in pediatric patients with congenital myotonic dystrophy (cDM1). The results showed a high prevalence of abnormal findings in electrocardiograms, with notable progressive changes and potential associated events, such as pacemaker implantation and sudden deaths. These findings emphasize the importance of regular cardiac evaluation in these patients.
FRONTIERS IN PEDIATRICS
(2022)
Article
Clinical Neurology
Stojan Peric, Jelena Zlatar, Luka Nikolic, Vukan Ivanovic, Jovan Pesovic, Ivana Petrovic Djordjevic, Svetlana Sreckovic, Dusanka Savic-Pavicevic, Giovanni Meola, Vidosava Rakocevic-Stojanovic
Summary: This study aimed to analyze the frequency and type of autoimmune diseases (AIDs) in patients with DM2 from the Serbian DM registry. The results showed that AIDs were present in as high as 30% of DM2 patients, with a significantly higher percentage of women among patients with AIDs. Therefore, screening for AIDs in DM2 patients seems reasonable.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Matteo Garibaldi, Tommaso Nicoletti, Elisabetta Bucci, Laura Fionda, Luca Leonardi, Stefania Morino, Laura Tufano, Girolamo Alfieri, Antonio Lauletta, Gioia Merlonghi, Alessia Perna, Salvatore Rossi, Enzo Ricci, Jorge Alonso Perez, Tommaso Tartaglione, Antonio Petrucci, Elena Maria Pennisi, Marco Salvetti, Gary Cutter, Jordi Diaz-Manera, Gabriella Silvestri, Giovanni Antonini
Summary: In a large cohort of DM1 patients, muscle involvement was characterized by fat replacement, muscle atrophy and STIR positivity, which correlated with disease severity and duration. The study also identified STIR hyperintensity as an early marker of muscle involvement, providing potential therapeutic targets for future clinical trials.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Biology
Lauren L. Ozimski, Maria Sabater-Arcis, Ariadna Bargiela, Ruben Artero
Summary: Myotonic dystrophy type 1 (DM1) is the most prevalent form of muscular dystrophy in adults with no current treatment options. The disease is mainly characterised by muscle pathology and affects patients worldwide. Research into various pathways affected in DM1 may provide new therapeutic targets.
BIOLOGICAL REVIEWS
(2021)
Article
Clinical Neurology
S. Thiebaut, I. Jaussent, L. Maimoun, S. Beziat, M. Seneque, D. Hamroun, P. Lefebvre, N. Godart, E. Renard, Ph Courtet, S. Guillaume
JOURNAL OF AFFECTIVE DISORDERS
(2019)
Meeting Abstract
Endocrinology & Metabolism
Yann Nguyen, Jerome Stirnemann, Bengherbia Monia, Karima Yousfi, Dalil Hamroun, Florent Lautredoux, Berengere Cador, Marc Berger, Bruno Fantin, Nadia Belmatoug
MOLECULAR GENETICS AND METABOLISM
(2019)
Meeting Abstract
Clinical Neurology
M. De Antonio, D. Hamroun, M. Gyenge, B. Eymard, J. Puymirat, C. Gagnon, G. Bassez
NEUROMUSCULAR DISORDERS
(2019)
Article
Biochemistry & Molecular Biology
Yann Nguyen, Jerome Stirnemann, Florent Lautredoux, Berengere Cador, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Leonardo Astudillo, Thierry Billette de Villemeur, Anais Brassier, Fabrice Camou, Florence Dalbies, Dries Dobbelaere, Francis Gaches, Vanessa Leguy-Seguin, Agathe Masseau, Yves-Marie Pers, Samia Pichard, Christine Serratrice, Marc G. Berger, Bruno Fantin, Nadia Belmatoug
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Endocrinology & Metabolism
Claudio Semplicini, Marie De Antonio, Nadjib Taouagh, Anthony Bhin, FranOoise Bouhour, Andoni Echaniz-Laguna, Armelle Magot, Aleksandra Nadaj-Pakleza, David Orlikowski, Sabrina Sacconi, Emmanuelle Salort-Campana, Guilhem Sole, Cline Tard, Fabien Zagnoli, Jean-Yves Hogrel, Dalil Hamroun, Pascal Lafort
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Article
Clinical Neurology
Louise Benarroch, Gisele Bonne, Francois Rivier, Dalil Hamroun
NEUROMUSCULAR DISORDERS
(2020)
Article
Clinical Neurology
Patricia Hafner, Simone Schmidt, Sabine Schadelin, Pascal Rippert, Dalil Hamroun, Solenn Fabien, Bettina Henzi, Niveditha Putananickal, Daniela Rubino-Nacht, Carole Vuillerot, Dirk Fischer
Summary: The study aimed to generate Motor Function Measure percentile curves for Duchenne Muscular Dystrophy patients, allowing for better evaluation of individual patients' status and disease progression. The results showed a decline in mean scores with age, and patients treated with glucocorticoids had higher mean values. The online tool with percentile curves provides clinical utility for interpreting individual standing and disease progression.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Kevin Mairot, Vasily Smirnov, Beatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Daniele Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pegart, Helena Huguet, Anne-Francoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
Summary: Pathogenic variants in CRB1 can cause a range of retinal disorders, with Muller cells playing a key role in the severity of the conditions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Enzo Cohen, Gisele Bonne, Francois Rivier, Dalil Hamroun
NEUROMUSCULAR DISORDERS
(2021)
Article
Clinical Neurology
Charlotte Dupe, Claire Lefeuvre, Guilhem Sole, Anthony Behin, Corinne Pottier, Fanny Duval, Robert-Yves Carlier, Helene Prigent, Jean Lacau St Guily, Azzeddine Arrassi, Nadjib Taouagh, Dalil Hamroun, Guillaume Nicolas, Pascal Laforet
Summary: This study described cases of late-onset Pompe disease (LOPD) with macroglossia, highlighting the significant functional impacts on speech, swallowing, and sleep. The detection of macroglossia should be included in the clinical diagnosis and follow-up of LOPD patients, with careful evaluation of its main consequences. Whole-body MRI with facial sections may facilitate early diagnosis of Pompe disease with the bright tongue sign.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Hematology
Sandrine Saugues, Celine Lambert, Elisabeth Daguenet, Hyacinthe Johnson Ansah, Ali Turhan, Francoise Huguet, Agnes Guerci-Bresler, Andrei Tchirkov, Dalil Hamroun, Eric Hermet, Bruno Pereira, Marc G. Berger
Summary: Guidelines for the management of chronic phase-chronic myeloid leukemia (CML) treated with tyrosine kinase inhibitors (TKIs) are mainly based on clinical research trial data. However, real-world data analysis from a French CML Observatory database reveals that second-generation TKIs have a faster treatment response. Being a woman and having residual disease at month 6 are identified as the main predictive factors for deep molecular response. Additionally, caution should be exercised in early treatment withdrawal as only a fraction of patients meeting the criteria for discontinuation actually stopped treatment.
ANNALS OF HEMATOLOGY
(2022)
Article
Clinical Neurology
Louise Benarroch, Gisele Bonne, Francois Rivier, Dalil Hamroun
NEUROMUSCULAR DISORDERS
(2023)
Article
Clinical Neurology
Claire Lefeuvre, Marie De Antonio, Francoise Bouhour, Celine Tard, Emmanuelle Salort-Campana, Emmeline Lagrange, Anthony Behin, Guilhem Sole, Jean-Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj-Pakleza, Arnaud Lacour, Stephane Beltran, Marco Spinazzi, Pascal Cintas, Dimitri Renard, Maud Michaud, Anne-Laure Bedat-Millet, Helene Prigent, Nadjib Taouagh, Azzeddine Arrassi, Dalil Hamroun, Shahram Attarian, Pascal Laforet, Pompe Study Grp
Summary: This study provides an update on the clinical and biological features of patients with late-onset Pompe disease in the French registry. The findings suggest that the disease is now diagnosed earlier and with lower clinical severity. The 6-minute walk test remains an important method for assessing motor performance and walking ability. The French registry provides a comprehensive overview of Pompe disease in the country and can be used to evaluate responses to future treatments.
Meeting Abstract
Rheumatology
Yann Nguyen, Jerome Stirnemann, Monia Bengherbia, Karima Yousfi, Dalil Hamroun, Wassim Allaham, Bruno Fantin, Nadia Belmatoug
ARTHRITIS & RHEUMATOLOGY
(2019)
Meeting Abstract
Ophthalmology
Beatrice Bocquet, Claire-Marie Dhaenens, Isabelle Perrault, Jean-Michel Rozet, Josseline Kaplan, Anne Francoise Roux, Dalil Hamroun, Gabriel Gardes, Gael Manes, Elfride De Baere, Bart P. Leroy, Vasiliki Kalatzis, Isabelle Anne Meunier
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2019)