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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/28739181/delayed-onset-of-ambulation-in-boys-with-duchenne-muscular-dystrophy-potential-use-as-an-endpoint-in-clinical-trials
#1
Jacob J Gissy, Teresa Johnson, Deborah J Fox, Anil Kumar, Emma Ciafaloni, Anthonie J van Essen, Holly L Peay, Ann Martin, Ann Lucas, Richard S Finkel
Individuals with Duchenne muscular dystrophy (DMD) often exhibit delayed motor and cognitive development, including delayed onset of ambulation. Data on age when loss of independent ambulation occurs are well established for DMD; however, age at onset of walking has not been well described. We hypothesize that an effective medication given in early infancy would advance the age when walking is achieved so that it is closer to age-matched norms, and that this discrete event could serve as the primary outcome measure in a clinical trial...
July 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28802771/dmd-and-west-syndrome
#2
Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6...
July 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28803818/a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy
#3
P Y K Van den Bergh, Y Sznajer, V Van Parys, W van Tol, R A Wevers, D J Lefeber, L Xu, M Lek, D G MacArthur, K Johnson, L Phillips, A Töpf, V Straub
Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131T > G (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity...
July 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28803817/6mwt-can-identify-type-3-sma-patients-with-neuromuscular-junction-dysfunction
#4
REVIEW
Maria Carmela Pera, Marco Luigetti, Marika Pane, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Elena S Mazzone, Laura Antonaci, Leonardo Lapenta, Concetta Palermo, Domiziana Ranalli, Giuseppe Granata, Mauro Lomonaco, Serenella Servidei, Eugenio Mercuri
The aim of the study was to establish if the decrease in gait velocity on the 6 minute walk test relates to signs of neuromuscular junction dysfunction in spinal muscular atrophy type 3 patients. 6 minute walk test and low-rate repetitive nerve stimulation test were performed in fifteen ambulant patients with spinal muscular atrophy type 3 of age between 9 and 66 years. The 6 minute walk distance ranged between 66 and 575 m. The difference between the first and the 6th minute ranged between 0 and -69%. The low-rate repetitive nerve stimulation test measured in % of loss ranged between -31...
July 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28797588/longitudinal-assessments-in-discordant-twins-with-sma
#5
Marika Pane, Leonardo Lapenta, Emanuela Abiusi, Roberto de Sanctis, Marco Luigetti, Concetta Palermo, Domiziana Ranalli, Stefania Fiori, Francesco Danilo Tiziano, Eugenio Mercuri
We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological signs of type 2 SMA. The reduction of tendon reflexes was the first clinical sign at the age of 4 months, followed within few weeks, by a mild decrement in the amplitude of the compound motor action potentials...
July 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28818390/three-novel-recessive-mutations-in-lama2-syne1-and-ttn-are-identified-in-a-single-case-with-congenital-muscular-dystrophy
#6
Liang Wu, Bingwu Xiang, Huan Zhang, Xiaoxiao He, Celina Shih, Xiang Chen, Tao Cai
Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders. Here, targeted next generation sequencing of 168 CMD-associated genes was performed on collected clinic samples to identify potential mutations. A loss-of-function mutation (c.4676-4682delGCTGCAA; p.Cys1560Thrfs*33) of the LAMA2 gene in a consanguineous family was identified and confirmed by Sanger sequencing. The second recessive mutation in SYNE1 (c.2881C>T; p.Arg961Trp) was found in the SAP motif, which was predicted to be involved in chromosomal organization...
July 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28807665/a-comparative-study-of-care-practices-for-young-boys-with-duchenne-muscular-dystrophy-between-japan-and-european-countries-implications-of-early-diagnosis
#7
Fumi Takeuchi, Hirofumi Komaki, Zentaro Yamagata, Kazushi Maruo, Sunil Rodger, Janbernd Kirschner, Takeo Kubota, En Kimura, Shin'ichi Takeda, Kathrin Gramsch, Julia Vry, Kate Bushby, Hanns Lochmüller, Keiji Wada, Harumasa Nakamura
Early diagnosis of Duchenne muscular dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. Genetic testing now allows the diagnosis of DMD even prior to the onset of symptoms. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis. We analysed 64 young boys (Japan, 19; the United Kingdom, 10; Germany, 18; Hungary, 6; Poland, 5; and the Czech Republic, 6) aged <5 years and diagnosed at ≤2 years old among the participants of the cross-sectional study about care practice in DMD...
July 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28735900/treatment-with-enzyme-replacement-therapy-during-pregnancy-in-a-patient-with-pompe-disease
#8
Merete Holbeck-Brendel, Birgitte Klindt Poulsen
Pregnancy is in general physically demanding, even more so for women with hereditary muscular diseases (HMDs). With increasing numbers of women with HMD reaching reproductive age, there is a growing need for research into what impact pregnancy can have on their clinical condition. A 25-year-old woman was diagnosed with Pompe disease at the age of 22 and began enzyme replacement therapy (ERT) right away. At the age of 25 she became pregnant. ERT was paused during the first trimester and recommenced throughout the second and third trimesters...
July 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28711279/diagnosis-of-duchenne-muscular-dystrophy-in-italy-in-the-last-decade-critical-issues-and-areas-for-improvements
#9
LETTER
Goknur Haliloglu, Ayşe Karaduman, Haluk Topaloglu
No abstract text is available yet for this article.
July 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28729039/congenital-myopathy-due-to-myosin-heavy-chain-2-mutation-presenting-as-chronic-aspiration-pneumonia-in-infancy
#10
R Tsabari, H Daum, E Kerem, Y Fellig, T Dor
A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous...
June 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694073/gluteus-maximus-hypertrophy-a-diagnostic-clue-in-four-and-a-half-lim-domain-1-mutated-reducing-body-myopathy
#11
Manu Jokela, Sanna Huovinen, Johanna Palmio, Anna-Maija Saukkonen, Sini Penttilä, Bjarne Udd
No abstract text is available yet for this article.
June 23, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28716623/a-second-truncation-in-ttn-causes-early-onset-recessive-muscular-dystrophy
#12
Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub
Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing. We undertook whole exome sequencing in four individuals with LGMD...
June 22, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694074/memory-b-cell-resurgence-requires-repeated-rituximab-in-myasthenia-gravis
#13
Kohei Muto, Naoko Matsui, Yuki Unai, Waka Sakai, Shotaro Haji, Kengo Udaka, Hirokazu Miki, Takahiro Furukawa, Masahiro Abe, Ryuji Kaji
The immunologic effects of rituximab (RTX) in myasthenia gravis (MG) remain to be explored. We aimed to clarify immunologic reactions and their association with response to RTX in MG. Regulatory T cell and B cell profiles of MG patients were monitored. Two patients presenting with generalized MG with anti-acetylcholine receptor antibodies were treated with RTX. The treatment led to sustained clinical improvement, discontinuation of intravenous immunoglobulin or plasma exchange, and reduction of prednisolone and other drugs...
June 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694071/first-clinical-and-genetic-description-of-a-family-diagnosed-with-late-onset-pompe-disease-from-costa-rica
#14
Gabriel Torrealba-Acosta, María Consuelo Rodríguez-Roblero, Sixto Bogantes-Ledezma, Kenneth Carazo-Céspedes, Claude Desnuelle
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weakness, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges...
June 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28734761/patients-with-duchenne-muscular-dystrophy-are-significantly-shorter-than-those-with-becker-muscular-dystrophy-with-the-higher-incidence-of-short-stature-in-dp71-mutated-subgroup
#15
Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsuo, Kazumoto Iijima
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS)...
June 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694072/acquired-equine-polyneuropathy-of-nordic-horses-a-conspicuous-inclusion-body-schwannopathy
#16
S Hanche-Olsen, K Matiasek, J Molín, M Rosati, C Hahn, K Hultin Jäderlund, G Gröndahl
Acquired equine polyneuropathy (AEP), formerly also known as Scandinavian knuckling syndrome, is one of the most prevalent polyneuropathies in equids in Norway and Sweden, with more than 400 cases registered since first observations in 1995. Despite geographical clustering and an association to forage feeding, its aetiology remains unknown. Clinically AEP is characterized by knuckling due to dysfunction of metatarsophalangeal extensor muscles. This neuropathological study aimed to gain further insights in the pathobiology of AEP and its underlying aetiopathogenesis...
June 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28645460/associations-between-timing-of-corticosteroid-treatment-initiation-and-clinical-outcomes-in-duchenne-muscular-dystrophy
#17
Sunkyung Kim, Yong Zhu, Paul A Romitti, Deborah J Fox, Daniel W Sheehan, Rodolfo Valdez, Dennis Matthews, Brent J Barber
The long-term efficacy of corticosteroid treatment and timing of treatment initiation among Duchenne muscular dystrophy (DMD) patients is not well-understood. We used data from a longitudinal, population-based DMD surveillance program to examine associations between timing of treatment initiation (early childhood [before or at age 5 years], late childhood [after age 5 years], and naïve [not treated]) and five clinical outcomes (age at loss of ambulation; ages at onset of cardiomyopathy, scoliosis, and first fracture; and pulmonary function)...
June 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28694075/double-seropositive-myasthenia-gravis-with-acetylcholine-receptor-and-low-density-lipoprotein-receptor-related-protein-4-antibodies-associated-with-invasive-thymoma
#18
Hidehiro Ishikawa, Akira Taniguchi, Yuichiro Ii, Osamu Higuchi, Hidenori Matsuo, Shunya Nakane, Masaru Asahi, Atsushi Niwa, Hidekazu Tomimoto
We describe two cases of myasthenia gravis (MG) with double seropositivity for acetylcholine receptor (AChR) and low-density lipoprotein receptor-related protein 4 (LRP4) antibodies (AChR/LRP4-MG) with invasive thymoma. Both cases showed myasthenic weakness, which was restricted to the ocular muscles for >5 months from onset, and then unprovoked severe clinical deterioration supervened with predominant bulbar symptoms. The patients responded adequately to therapeutic intervention. Serum AChR antibody levels at post-intervention were markedly decreased, whereas LRP4 antibodies were almost unchanged in case 1 and slightly decreased in case 2...
June 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#19
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#20
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
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