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Neuromuscular Disorders: NMD

J García-García, M A Fernández-García, P Blanco-Arias, M I Díaz-Maroto-Cicuendez, F Salmerón-Martínez, V M Hidalgo-Olivares, M Olivé
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. The neurological examination identified mild proximal leg weakness and her cardiac evaluation showed a non-compaction cardiomyopathy with normal left ventricle function...
August 13, 2018: Neuromuscular Disorders: NMD
Keiko Ishigaki, Chikoto Ihara, Harumasa Nakamura, Madoka Mori-Yoshimura, Kazushi Maruo, Mariko Taniguchi-Ikeda, En Kimura, Terumi Murakami, Takatoshi Sato, Tatsushi Toda, Hisanobu Kaiya, Makiko Osawa
Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013...
August 10, 2018: Neuromuscular Disorders: NMD
Anton Ivanyuk, Nuria García Segarra, Thierry Buclin, Andrea Klein, David Jacquier, Christopher J Newman, Clemens Bloetzer
Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. To our knowledge, it has never been reported in boys with Duchenne muscular dystrophy (DMD) after the administration of bisphosphonates. We report two patients with DMD who presented an apparent transient rhabdomyolysis with myoglobinuria after zoledronate administration. Possible mechanisms could involve hypophosphatemia, a known dose-dependent side effect of bisphosphonates, and/or direct myotoxicity of biphosphonates...
August 10, 2018: Neuromuscular Disorders: NMD
B Schoser
No abstract text is available yet for this article.
August 9, 2018: Neuromuscular Disorders: NMD
Frédéric Lofaso, Hèlene Prigent, Djillali Annane, David Orlikowski, Karim Wahbi, Pascal Laforêt, Bruno Eymard, Tanya Stojkovic, Anthony Béhin, Ghilas Boussaid
No abstract text is available yet for this article.
August 7, 2018: Neuromuscular Disorders: NMD
Giuseppe Fiorentino, Antonio M Esquinas
No abstract text is available yet for this article.
August 4, 2018: Neuromuscular Disorders: NMD
Maria Carmela Pera, Marco Luigetti, Serena Sivo, Leonardo Lapenta, Giuseppe Granata, Laura Antonaci, Giorgia Coratti, Nicola Forcina, Marika Pane, Eugenio Mercuri
No abstract text is available yet for this article.
August 4, 2018: Neuromuscular Disorders: NMD
Kumiko Ishiguro, Takahiro Nakayama, Masaru Yoshioka, Terumi Murakami, Sachiko Kajino, Minobu Shichiji, Takatoshi Sato, Naomi Hino-Fukuyo, Satoshi Kuru, Makiko Osawa, Satoru Nagata, Mariko Okubo, Nobuyuki Murakami, Yukiko K Hayashi, Ichizo Nishino, Keiko Ishigaki
Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3...
July 31, 2018: Neuromuscular Disorders: NMD
Florian Barthélémy, Nicolas Wein
Dystrophinopathies are diseases caused by mutations in the Duchenne Muscular Dystrophy gene (DMD) encoding the dystrophin protein. Depending on the type of mutation, patients develop either the severe DMD or the milder Becker Muscular Dystrophy. Although substantial effort was made, the pathophysiology and variation in disease severity are still poorly understood. During the last two decades, relentless efforts were made to develop therapeutic strategies. Among these, gene therapy and cell replacement therapy appear very promising...
July 26, 2018: Neuromuscular Disorders: NMD
P Carbonell-Corvillo, E Tristán-Clavijo, M Cabrera-Serrano, E Servián-Morilla, G García-Martín, L Villarreal-Pérez, E Rivas-Infante, E Area-Gómez, M I Chamorro-Muñoz, A Gil-Gálvez, A Miranda-Vizuete, A Martinez-Mir, N Laing, C Paradas
MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases...
July 26, 2018: Neuromuscular Disorders: NMD
Christopher W Ward, Frederick Sachs, Ernest D Bush, Thomas M Suchyna
Duchenne muscular dystrophy is a life-limiting muscle disease that has no current effective therapy. Despite mounting evidence that dysregulation of mechanosensitive ion channels is a significant contributor to dystrophy pathogenesis, effective pharmacologic strategies targeting these channels are lacking. GsMTx4, and its enantiomer GsMTx4-D, are peptide inhibitors of mechanosensitive channels with identical activity. In previous studies, acute in vitro application of GsMTx4 to dystrophic murine muscle effectively reduced the excess MSC dependent calcium influx linked to contraction-induced muscle damage...
July 21, 2018: Neuromuscular Disorders: NMD
M J Damen, A van der Meer, N C Voermans, A A Tieleman
We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely Graves' disease and celiac disease. Previous studies have shown a high frequency of autoimmune diseases (21%) in patients with DM2. This is the first report of a patient with DM2 and two autoimmune diseases which both have not yet been described in DM2. The cause of this association might be explained at DNA, mRNA and protein levels, including genetic mutation in flanking genes and the toxic effect of the DM2 mutation on proteins involved in inflammation...
July 20, 2018: Neuromuscular Disorders: NMD
S Fecarotta, V Gragnaniello, R Della Casa, A Romano, E Raiano, A Torella, M Savarese, V Nigro, P Strisciuglio, G Andria, G Parenti
Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment...
July 19, 2018: Neuromuscular Disorders: NMD
J M Pardal-Fernández, M C Carrascosa-Romero, S Álvarez, M C Medina-Monzón, M Bengoa Caamaño, C de Cabo
Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. Up to 32 genes are known to be involved in those syndromes and many mutations have been reported, of which less than 8% affect the presynaptic complex. One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143)...
July 6, 2018: Neuromuscular Disorders: NMD
Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, Irene Wacker, Rasmus Schröder, Hans-Hilmar Goebel, Catherine Butori, Luisa Villa, Sabrina Sacconi, Werner Stenzel
Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two patients, from two independent families with identical DNM2 (dynamin 2) mutation (c.1106 G > A (p.Arg369Gln)), displaying mildly heterogeneous clinical phenotypes. The variant is characterized by lysosomal inclusions, arranged in a necklace pattern, containing homogenous material, devoid of myonuclei. The so-called necklace region has a certain characteristic distance to the sarcolemma...
July 2, 2018: Neuromuscular Disorders: NMD
Ha-Neul Jeong, Ji Sook Yi, Young Han Lee, Jung Hwan Lee, Ha Young Shin, Young-Chul Choi, Seung Min Kim
Hyperkalemic periodic paralysis (hyperKPP) is a muscle channelopathy characterized by recurrent paralytic attacks. Our previous study, in which we conducted whole-body muscle magnetic resonance imaging (MRI) in patients with hyperKPP, revealed muscle atrophy and fatty change in the lower extremity, especially in older persons. The aim of current study was to identify the progression of myopathy in hyperKPP patients had been assessed in the previous study. We performed lower-extremity muscle MRI in seven hyperKPP patients carrying the T704M mutation in the SCN4A gene at an interval of 30 months...
June 30, 2018: Neuromuscular Disorders: NMD
Urielle Ullmann, Luigi D'Argenzio, Shrey Mathur, Tamieka Whyte, Ros Quinlivan, Cheryl Longman, Maria Elena Farrugia, Adnan Manzur, Tracey Willis, Heinz Jungbluth, Matthew Pitt, Sebahattin Cirak, Lucy Feng, William Stewart, Rachael Mein, Rahul Phadke, Caroline Sewry, Anna Sarkozy, Francesco Muntoni
Autosomal recessive mutations in the ECEL1 gene have recently been associated with a wide phenotypic spectrum including severe congenital contractural syndromes and distal arthrogryposis type 5D (DA5D). Here, we describe four novel families with ECEL1 gene mutations, reporting 15 years of follow-up for four patients and detailed muscle pathological description for three individuals. In particular, we observed mild myopathic features, prominent core-like areas in one individual, and presence of nCAM positive fibres in three patients from 2 unrelated families suggesting a possible problem with innervation...
September 2018: Neuromuscular Disorders: NMD
Sophelia Hoi Shan Chan, Nens van Alfen, Inger Johanne Thuestad, Janice Ip, Angel On-Kei Chan, Christopher Mak, Brian Hon-Yin Chung, Aad Verrips, Erik-Jan Kamsteeg
We describe four unrelated patients with the same de novo heterozygous missense mutation c.751C>T in the DYNC1H1 gene. We found a high phenotype-genotype correlation with all four patients having early childhood-onset predominant lower limb muscle weakness and wasting which was slowly progressing and later-onset mild upper extremities proximal weakness. All four patients presented minor cognitive dysfunction with learning difficulty and developmental behavioural comorbidities with mild abnormalities in the brain MRI...
September 2018: Neuromuscular Disorders: NMD
I Vandersmissen, V Biancalana, L Servais, J J Dowling, G Vander Stichele, S Van Rooijen, L Thielemans
Centronuclear myopathies (CNM) are a group of rare inherited muscular disorders leading to a significantly reduced quality of life and lifespan. To date, CNM epidemiologic reports provide limited incidence and prevalence data. Here, an integrated model utilizing available literature is proposed to obtain a better estimate of overall CNM patient numbers by age, causative gene, severity and geographic region. This model combines published epidemiology data and extrapolates limited data over CNM subtypes, resulting in patient numbers related to age and disease subtype...
September 2018: Neuromuscular Disorders: NMD
Lisa C Power, Gina L O'Grady, Tim S Hornung, Craig Jefferies, Silmara Gusso, Paul L Hofman
Duchenne Muscular Dystrophy is the most common paediatric neuromuscular disorder. Mutations in the DMD gene on the X-chromosome result in progressive skeletal muscle weakness as the main clinical manifestation. However, cardiac muscle is also affected, with cardiomyopathy becoming an increasingly recognised cause of morbidity, and now the leading cause of mortality in this group. The diagnosis of cardiomyopathy has often been made late due to technical limitations in transthoracic echocardiograms and delayed symptomatology in less mobile patients...
September 2018: Neuromuscular Disorders: NMD
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