Peter Karachunski, DeWayne Townsend
Duchenne muscular dystrophy is a devastating muscle disease characterized by muscle deterioration and cardiomyopathy. The cardiomyopathy is progressive in nature, marked by the accumulation of myocardial scarring and the loss of contractile function. The presence of cardiac disfunction is nearly universal in individuals with Duchenne muscular dystrophy with dysfunction being evident in patients < 10 years of age. In recognition of importance of prophylactic treatment, clinical guidelines recommend beginning treatment of the heart disease in Duchenne muscular dystrophy patients at 10 years of age, even in the absence of cardiac dysfunction...
September 19, 2023: Neuromuscular Disorders: NMD
Bianca Buchignani, Gianpaolo Cicala, Federica Moriconi, Martina Ricci, Anna Capasso, Giorgia Coratti, Jacopo Casiraghi, Emilio Albamonte, Paola Cristofani, Costanza Cutrona, Maria C Pera, Laura Antonaci, Camilla Roncoroni, Daniela Chieffo, Valeria A Sansone, Roberta Battini, Marika Pane, Eugenio Mercuri
There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.5-17 years, were consecutively enrolled in a prospective, multicentric study. Cognitive function was assessed using age-appropriate Weschler Scales. Motor function was concomitantly assessed using disease-specific functional scales...
September 9, 2023: Neuromuscular Disorders: NMD
Marianne de Visser, Pierre Carlier, Jiří Vencovský, Kateřina Kubínová, Corinna Preusse
The 255th ENMC workshop on Muscle Imaging in Idiopathic Inflammatory myopathies (IIM) aimed at defining recommendations concerning the applicability of muscle imaging in IIM. The workshop comprised of clinicians, researchers and people living with myositis. We aimed to achieve consensus on the following topics: a standardized protocol for the evaluation of muscle images in various types of IIMs; the exact parameters, anatomical localizations and magnetic resonance imaging (MRI) techniques; ultrasound as assessment tool in IIM; assessment methods; the pattern of muscle involvement in IIM subtypes; the application of MRI as biomarker in follow-up studies and clinical trials, and the place of MRI in the evaluation of swallowing difficulty and cardiac manifestations...
September 3, 2023: Neuromuscular Disorders: NMD
Diana Esteller, Jasper Morrow, Jorge Alonso-Pérez, David Reyes, Alvaro Carbayo, Giulia Bisogni, Michela Cateruccia, Mauro Monforte, Giorgio Tasca, Aljwhara Alangary, Chiara Marini-Bettolo, Mario Sabatelli, Matilde Laura, Gita Ramdharry, Carla Bolaño-Díaz, Janina Turon-Sans, Ana Töpf, Michella Guglieri, Alexander M Rossor, Montse Olive, Enrico Bertini, Volker Straub, Mary M Reilly, Ricard Rojas-García, Jordi Díaz-Manera
Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data. Muscle MRI included T1-weighted and T2 weighted Short Tau Inversion Recovery images (STIR-T2w) sequences...
August 28, 2023: Neuromuscular Disorders: NMD
Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov
GNE myopathy is caused by bi allelic recessive mutations in the GNE gene. The largest identified cohort of GNE myopathy patients carries a homozygous mutation- M743T (the "Middle Eastern" mutation). More than 160 such patients in 67 families have been identified by us. Mean onset in this cohort is 30 years (range 17-48) with variable disease severity. However, we have identified two asymptomatic females, homozygous for M743T in two different families, both with affected siblings. The first showed no myopathy when examined at age 76 years...
August 27, 2023: Neuromuscular Disorders: NMD
Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, Chiara Fiorillo, Marcello Scala, Valentina Taglietti, Andreea Iuliana Cojocaru, Dima Jouni, Lucie Tosca, Gérard Tachdjian, Isabelle Desguerre, François-Jérome Authier, Robert-Yves Carlier, Corinne Metay, Camille Verebi, Edoardo Malfatti
Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood. Serum Creatine kinase level was normal. Whole-body muscle MRI showed thin muscles, and brain MRI was unremarkable. A deltoid muscle biopsy showed glycogen storage...
August 25, 2023: Neuromuscular Disorders: NMD
Thanneer Malai Perumal, Detlef Wolf, Doris Berchtold, Grégoire Pointeau, Yan-Ping Zhang, Wei-Yi Cheng, Florian Lipsmeier, Jörg Sprengel, Christian Czech, Claudia A Chiriboga, Michael Lindemann
Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness and paralysis. Motor function is monitored in the clinical setting using assessments including the 32-item Motor Function Measure (MFM-32), but changes in disease severity between clinical visits may be missed. Digital health technologies may assist evaluation of disease severity by bridging gaps between clinical visits. We developed a smartphone sensor-based assessment suite, comprising nine tasks, to assess motor and muscle function in people with SMA...
August 25, 2023: Neuromuscular Disorders: NMD
Eva Heidsieck, Kristina Gutschmidt, Benedikt Schoser, Stephan Wenninger
Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide disorder that often leads to respiratory dysfunction resulting in hypoventilation symptoms, reduced quality of life and causing premature death if untreated. To early identify symptoms of hypoventilation, the Respicheck questionnaire was developed as a screening tool. Symptomatic therapies like inspiratory muscle training (IMT) are recommended to strengthen respiratory muscles and reduce or even prevent hypoventilation symptoms. Our study aimed to evaluate the Respicheck questionnaire's suitablility to monitor the efficacy of IMT...
August 25, 2023: Neuromuscular Disorders: NMD
Misawa Niki Ishii, Maria Quinton, Hidenori Kamiguchi
Duchenne muscular dystrophy (DMD) is a genetic disease characterized by progressive muscle loss caused by mutations in dystrophin, resulting in decreased dystrophin levels. Dystrophin protein expression is a biomarker used to evaluate treatments that restore patient dystrophin levels. Currently, a semiquantitative assay using western blotting, which normalizes dystrophin expression to that of a control population, is used for regulatory filing. However, the current methods are limited in terms of sensitivity, quantification, and reproducibility...
August 23, 2023: Neuromuscular Disorders: NMD
Chang Liu, Jiajian Ma, Yanyu Lu, Yunlong Lu, Jiahui Mai, Li Bai, Yikang Wang, Yilei Zheng, Meng Yu, Yiming Zheng, Jianwen Deng, Lingchao Meng, Wei Zhang, Zhaoxia Wang, Yun Yuan, Zhiying Xie
We aimed to investigate the clinical, pathological, and genetic characteristics of Chinese female dystrophinopathy and to identify possible correlations among them. One hundred forty genetically and/or pathologically confirmed female DMD variant carriers were enrolled, including 104 asymptomatic carriers and 36 symptomatic carriers. Twenty of 36 symptomatic and 16 of 104 asymptomatic carriers were sporadic with no family history. Muscle pathological analysis was performed in 53 carriers and X chromosome inactivation (XCI) analysis in 19 carriers...
August 19, 2023: Neuromuscular Disorders: NMD
Ikhlass Belhassen, Sirine Laroussi, Salma Sakka, Sabrine Rekik, Laila Lahkim, Mariem Dammak, François Jerome Authier, Chokri Mhiri
Dysferlinopathy is a rare group of hereditary muscular dystrophy with an autosomal recessive mode of inheritance caused by a mutation in the DYSF gene. It encodes for the dysferlin protein, which has a crucial role in multiple cellular processes, including muscle fiber membrane repair. This deficit has heterogeneous clinical presentations. In this study, we collected 20 Tunisian patients with a sex ratio of 1 and a median age of 50.5 years old (Interquartile range (IQR) = [36,5-54,75]). They were followed for periods ranging from 5 to 48 years...
August 18, 2023: Neuromuscular Disorders: NMD
Mustafa A Salih
No abstract text is available yet for this article.
August 9, 2023: Neuromuscular Disorders: NMD
Bettine Anna Hildegard Vosse, Corinne Gosewina Cornelia Horlings, Isis Bep Theodora Joosten, Nicolle Andrée Marie Cobben, Sander Martijn Job van Kuijk, Peter Jan Wijkstra, Catharina Gerritdina Faber
Chronic respiratory insufficiency is common in patients with myotonic dystrophy type 1 (DM1) and can be treated with noninvasive home mechanical ventilation (HMV). HMV is not always tolerated well resulting in low treatment adherence. We aimed to analyze if baseline respiratory characteristics such as pulmonary function, level of pCO2 and presence of sleep apnea are associated with HMV treatment adherence in DM1 patients. Pulmonary function testing, polysomnography and blood gas measurement data of DM1 patients were retrospectively collected...
August 9, 2023: Neuromuscular Disorders: NMD
Ritwik Ghosh, Souvik Dubey, Julián Benito-León
No abstract text is available yet for this article.
August 6, 2023: Neuromuscular Disorders: NMD
Rutvi Patel, Thomas Reynolds, Jonathan Swartz
Muscle atrophy, weakness, and loss of ambulation in the pediatric population are signs of progressive neuromuscular diseases. Rapid identification of such diseases is important to prevent further progression. In pediatric neurology, it is well understood to include neuromuscular disorders in the differential for such presentations. We report a case of severe nutritional rickets that mimicked the presentation of spinal muscular atrophy type III and discuss the importance of including rickets in the differential for muscle atrophy and loss of ambulation...
August 3, 2023: Neuromuscular Disorders: NMD
Xiaona Fu, Xinying Yang, Xiaofei Wang, Bingbing Jia, Wenna Ma, Hui Xiong, Fang Fang, Xiaotun Ren, Junlan Lv
Neutral lipid-storage disease with myopathy (NLSDM) is an autosomal recessive neuromuscular disorder caused by mutations in PNPLA2, and the average age at onset is 30 years. To date, only eight patients with childhood-onset NLSDM have been reported in detail. We investigated 3 unreported patients with NLSDM detected in childhood and reviewed 8 childhood-onset and 82 adult-onset patients with NLSDM documented in the literature. In the childhood-onset cohort, NLSDM presented initially as asymptomatic or paucisymptomatic hyperCKemia in 6/11 patients, and follow-up data showed onset of muscle weakness in 6/11 childhood-onset patients...
July 30, 2023: Neuromuscular Disorders: NMD
Hirotaka Nomiya, Tadanori Hamano, Naoko Takaku, Hirohito Sasaki, Kojiro Usui, Sayaka Sanada, Tomohisa Yamaguchi, Yuki Kitazaki, Yoshinori Endo, Tomoko Kamisawa, Soichi Enomoto, Norimichi Shirafuji, Akiko Matsunaga, Asako Ueno, Masamichi Ikawa, Osamu Yamamura, Minoru Hasegawa, Hirohiko Kimura, Ichizo Nishino, Yasunari Nakamoto
Anti-mitochondrial M2 antibody (AMA-M2)-positive myositis is an idiopathic inflammatory myopathy (IIM). Of all patients with myositis, 2.5-19.5% have AMA-M2 antibodies. However, the detailed distribution of muscles affected in AMA-positive myositis is unknown. Therefore, we examined lower muscle magnetic resonance imaging (MRI) findings of patients with AMA-positive myositis. Among the 63 patients with IIM at our institute, 5 (7.9%) were positive for AMA-M2 antibodies. However, one was also positive for anti-Jo1 antibodies; therefore, four patients were finally participated in this study...
July 25, 2023: Neuromuscular Disorders: NMD
Ikuya Nonaka
No abstract text is available yet for this article.
July 25, 2023: Neuromuscular Disorders: NMD
Agata Oliwa, Gavin Langlands, Anna Sarkozy, Pinki Munot, Willie Stewart, Rahul Phadke, Ana Topf, Volker Straub, Roderick Duncan, Ralph Wigley, Richard Petty, Cheryl Longman, Maria Elena Farrugia
Glycogen storage disease type IV (GSD IV) is caused by mutations in the glycogen branching enzyme 1 (GBE1) gene and is characterized by accumulation of polyglucosan bodies in liver, muscle and other tissues. We report three cases with neuromuscular forms of GSD IV, none of whom had polyglucosan bodies on muscle biopsy. The first case had no neonatal problems and presented with delayed walking. The other cases presented at birth: one with arthrogryposis, hypotonia, and respiratory distress, the other with talipes and feeding problems...
July 23, 2023: Neuromuscular Disorders: NMD
Gianpaolo Cicala, Marika Pane, Giorgia Coratti, Claudia Brogna, Lavinia Fanelli, Giulia Norcia, Nicola Forcina, Elena Mazzone, Giulia Stanca, Roberta Ferrante, Alessandra Vento, Elisabetta Ferraroli, Martina Ricci, Anna Capasso, Daniela Leone, Concetta Palermo, Beatrice Berti, Costanza Cutrona, Anna Mahyew, Tina Duong, Natalie Goemans, Elizabeth Vroom, Eugenio Mercuri
The increasing pressure to include non ambulant Duchenne muscular dystrophy (DMD) boys in clinical trials has highlighted the need for outcome measures that could address the impact of upper limb function on activities of daily living. The aim of the present study was to establish the correlation between the recently developed Patient Reported Outcome Measure for the upper limb (PROM UL) and the observer rated functional scale Performance of Upper Limb (PUL 2.0) in a large cohort of DMD boys and young adults...
July 22, 2023: Neuromuscular Disorders: NMD
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