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JOURNAL ARTICLE
Nazan Şimşek Erdem, Gökçe Yağmur Güneş Gencer, Abir Alaamel, Hilmi Uysal
The aim of this study was to assess the effect of 4 loading doses of nusinersen on motor function and quality of life (QoL) in adult patients with spinal muscular atrophy (SMA). Twenty-one adult patients with genetically confirmed SMA who were treated with 4 loading doses of nusinersen were included in this study. All patients were evaluated with the Medical Research Council (MRC) scale, the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Short Form Survey-36 (SF-36) at baseline (V1) and before the first nusinersen maintenance treatment, which was at the 15th month of treatment (V2)...
March 2024: Neuromuscular Disorders: NMD
#22
JOURNAL ARTICLE
Lisanne Hubregtse, Karlijn Bouman, Chéryane Lama, Saskia Lassche, Nicolas de Graaf, Valentina Taglietti, Benno Küsters, Baptiste Periou, Frédéric Relaix, Baziel van Engelen, François-Jerôme Authier, Nicol C Voermans, Edoardo Malfatti
The aim of this study was to identify key routinely used myopathologic biomarkers of FSHD1. Needle muscle biopsies were taken in 34 affected muscles (m. quadriceps femoris (QF), n = 20, m. tibialis anterior (TA), n = 13, m. biceps brachii, n = 1) from 22 patients (age, 53.5 (10) years; M = 12, F = 10). Eleven patients had more than one biopsy (2xQF, n = 1; QF+TA, n = 9; 2xQF+TA, n = 1). Histochemistry, immunoperoxidase, and immunofluorescence stainings were performed and compared to age and muscle type matched muscle specimens of 11 healthy controls...
March 2024: Neuromuscular Disorders: NMD
#23
Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, Isabelle van Beckhoven
The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts to increase patient-awareness and strengthen collaborations. Key outcomes were (a) ongoing natural history studies in 7 countries already covered more than 350 patients...
March 2024: Neuromuscular Disorders: NMD
#24
JOURNAL ARTICLE
Swathy Krishna, Arden B Piepho, Dana M Lake, Laurel R Cumby, Kaelyn K Lortz, Jeovanna Lowe, Jeffrey S Chamberlain, Jill A Rafael-Fortney
Duchenne muscular dystrophy (DMD) is a devastating muscle disease caused by the absence of functional dystrophin. There are multiple ongoing clinical trials for DMD that are testing gene therapy treatments consisting of adeno-associated viral (AAV) vectors carrying miniaturized versions of dystrophin optimized for function, termed micro-dystrophins (μDys). Utrophin, the fetal homolog of dystrophin, has repeatedly been reported to be upregulated in human DMD muscle as a compensatory mechanism, but whether µDys displaces full-length utrophin is unknown...
March 2024: Neuromuscular Disorders: NMD
#25
LETTER
S Herdewyn, J De Bleecker, L Janssens, S Symoens, M Milazzo, J De Puydt
No abstract text is available yet for this article.
February 2024: Neuromuscular Disorders: NMD
#26
RANDOMIZED CONTROLLED TRIAL
Renata Siciliani Scalco, Jasper M Morrow, Andreea Manole, Iwona Skorupinska, Federico Ricciardi, Emma Matthews, Michael G Hanna, Doreen Fialho
The aim of this study was to establish whether bumetanide can abort an acute attack of weakness in patients with HypoPP. This was a randomised, double-blind, cross-over, placebo-controlled phase II clinical trial. Focal attack of weakness was induced by isometric exercise of ADM followed by rest (McManis protocol). Participants had two study visits and received either placebo or 2 mg bumetanide at attack onset (defined as 40 % decrement in the abductor digiti minimi CMAP amplitude from peak). CMAP measurements assessed attack severity and duration...
February 2024: Neuromuscular Disorders: NMD
#27
JOURNAL ARTICLE
Hans H Goebel, Werner Stenzel
No abstract text is available yet for this article.
February 2024: Neuromuscular Disorders: NMD
#28
JOURNAL ARTICLE
Hamed Shahriyari, Mahtab Ramezani, Yalda Nilipour, Ali Asghar Okhovat, Ariana Kariminejad, Leila Aghaghazvini, Farzad Fatehi, Shahriar Nafissi
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness and asymmetric involvement may suggest lipid storage myopathy. While skeletal muscle weakness was the main manifestation in our patients, one case presented only with hyperCKemia...
February 2024: Neuromuscular Disorders: NMD
#29
Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun
No abstract text is available yet for this article.
January 2024: Neuromuscular Disorders: NMD
#30
Pannathat Soontrapa, Nathan A Seven, Teerin Liewluck, Gaofeng Cui, Georges Mer, Margherita Milone
Valosin-containing protein (VCP) pathogenic variants are the most common cause of multisystem proteinopathy presenting with inclusion body myopathy, amyotrophic lateral sclerosis/frontotemporal dementia, and Paget disease of bone in isolation or in combination. We report a patient manifesting with adolescent-onset myopathy caused by a novel heterozygous VCP variant (c.467G > T, p.Gly156Val). The myopathy manifested asymmetrically in lower limbs and extended to proximal, axial, and upper limb muscles, with loss of ambulation at age 35...
January 2024: Neuromuscular Disorders: NMD
#31
JOURNAL ARTICLE
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, Nuria Muelas, C Dominguez-González, Carmen Paradas, Montse Olivé, Mar García-Romero, Samuel Ignacio Pascual-Pascual, Josep Maria Grau, Miguel Angel Barba-Romero, Maria Teresa Gomez-Caravaca, Javier de Las Heras, Pilar Casquero, Maria Dolores Mendoza, Juan Carlos de León, Antonio Gutierrez, Germán Morís, Raquel Blanco-Lago, Alba Ramos-Fransi, Guillem Pintós, Maria José García-Antelo, Maria Rabasa, Yolanda Morgado, Mercedes Usón, Francisco Javier Miralles, Jose Eulalio Bárcena-Llona, Ana Belén Gómez-Belda, Maria Isabel Pedraza-Hueso, Miryam Hortelano, Antoni Colomé, Guillermina Garcia-Martin, Adolfo Lopez de Munain, Ivonne Jericó, Lucía Galán-Dávila, Julio Pardo, Giorgina Salgueiro-Origlia, Jorge Alonso-Pérez, Francesc Pla-Junca, Marianela Schiava, Sonia Segovia-Simón, Jordi Díaz-Manera
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients...
January 2024: Neuromuscular Disorders: NMD
#32
JOURNAL ARTICLE
Carla Bolano-Diaz, José Verdú-Díaz, Alejandro Gonzalez-Chamorro, Sam Fitzsimmons, Gopi Veeranki, Volker Straub, Jordi Diaz-Manera
The identification of disease-characteristic patterns of muscle fatty replacement in magnetic resonance imaging (MRI) is helpful for diagnosing neuromuscular diseases. In the Clinical Outcome Study of Dysferlinopathy, eight diagnostic rules were described based on MRI findings. Our aim is to confirm that they are useful to differentiate dysferlinopathy (DYSF) from other genetic muscle diseases (GMD). The rules were applied to 182 MRIs of dysferlinopathy patients and 1000 MRIs of patients with 10 other GMD. We calculated sensitivity (S), specificity (Sp), positive and negative predictive values (PPV/NPV) and accuracy (Ac) for each rule...
January 2024: Neuromuscular Disorders: NMD
#33
REVIEW
Lizan Stinissen, Sietse Bouma, Johann Böhm, Jeno van Tienen, Holger Fischer, Zak Hughes, Anne Lennox, Erin Ward, Marie Wood, A Reghan Foley, Wija Oortwijn, Heinz Jungbluth, Nicol C Voermans
The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants' experiences as well as barriers and facilitators of participation are important to optimize future research and to inform clinical trial management. Centronuclear myopathies (CNMs) including X-linked myotubular myopathy (XLMTM) are a group of rare congenital myopathies for which there is no cure currently...
December 23, 2023: Neuromuscular Disorders: NMD
#34
EDITORIAL
Anders Oldfors
No abstract text is available yet for this article.
December 22, 2023: Neuromuscular Disorders: NMD
#35
JOURNAL ARTICLE
Sandra J M Maagdenberg, Sylvia Klinkenberg, J Sophie van den Berg, Sandra Altena-Rensen, Desiree Vrijens, Etienne J M Janssen, Nicole Gierenz, Liesbeth L de Wall, Hilde M H Braakman
Gastrointestinal and urological symptoms are frequently reported by people with myotonic dystrophy type 1 (DM1) but have remained understudied. In a cross-sectional study, frequency, nature, treatment and impact of gastrointestinal and urological symptoms in children with DM1 aged 5-18 years were assessed. We included 58 children (30 males, 28 females) with a mean age of 13 years; 74.1 % reported at least one gastrointestinal symptom. Abdominal pain was the most frequently reported symptom (51.7 %), followed by dysphagia (41...
December 21, 2023: Neuromuscular Disorders: NMD
#36
Zhiying Xie, Chengyue Sun, Chang Liu, Yanyu Lu, Bin Chen, Rui Wu, Yanru Liu, Ran Liu, Qing Peng, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Wei Zhang, Yun Yuan
Deep-intronic variants that create or enhance a splice site are increasingly reported as a significant cause of monogenic diseases. However, deep-intronic variants that activate pseudoexons by affecting a branch point are extremely rare in monogenic diseases. Here, we describe a novel deep-intronic DMD variant that created a branch point in a Duchenne muscular dystrophy (DMD) patient. A 7.0-year-old boy was enrolled because he was suspected of DMD based on his clinical, muscle imaging, and pathological features...
December 20, 2023: Neuromuscular Disorders: NMD
#37
Carina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, Henna Tyynismaa, Markus T Sainio, Emil Ylikallio, Olli Tynninen, Katarina Pelin, Mari Auranen
Patients with myopathies caused by pathogenic variants in tropomyosin genes TPM2 and TPM3 usually have muscle hypotonia and weakness, their muscle biopsies often showing fibre size disproportion and nemaline bodies. Here, we describe a series of patients with hypercontractile molecular phenotypes, high muscle tone, and mostly non-specific myopathic biopsy findings without nemaline bodies. Three of the patients had trismus, whilst in one patient, the distal joints of her fingers flexed on extension of the wrists...
December 15, 2023: Neuromuscular Disorders: NMD
#38
Emanuela Abiusi, Mar Costa-Roger, Enrico Silvio Bertini, Francesco Danilo Tiziano, Eduardo F Tizzano
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic decision in SMA patients: participants discussed the issues that laboratories may encounter in this molecular test and the cruciality of the accurate determination, due the implications as prognostic factor in symptomatic patients and in individuals identified through newborn screening programmes...
December 14, 2023: Neuromuscular Disorders: NMD
#39
JOURNAL ARTICLE
Luca Nart, Mahalekshmi Desikan, Aleksandra Pietrusz, Konstantinos Savvatis, Ros Quinlivan
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy worldwide. With increasing survival, there is now a greater awareness of associated neurodevelopmental co-morbidities. Despite this, there is currently a limited understanding of how these co-morbidities might potentially impact on health outcomes. This study reviewed the characteristics of 37 adults with DMD who died between 2011 and 2022. The median age of death was 22.25 years, and those with neurodevelopmental co-morbidities had statistically poorer survival than those without a neurodevelopmental disorder...
December 13, 2023: Neuromuscular Disorders: NMD
#40
JOURNAL ARTICLE
Rachel E Trimmer, William P L Mandy, Francesco Muntoni, Kate E Maresh
In this multi-methods study we explored the characteristics, causes and impact of anxiety in Duchenne muscular dystrophy (DMD) from the perspective of young males with DMD and their parents. Eight young males with DMD (7-18 years) and 14 parents participated in separate focus groups. Perspectives on anxiety were explored using semi-structured interview schedules. Themes were identified using Framework Analysis. Neurodevelopmental, emotional and behavioural symptom scores were obtained using standard instruments including the Strengths and Difficulties Questionnaire and Revised Children's Anxiety and Depression Scale...
December 9, 2023: Neuromuscular Disorders: NMD
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