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Neuromuscular Disorders: NMD

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https://www.readbyqxmd.com/read/29934119/myotonia-congenita-in-a-labrador-retriever-with-truncated-clcn1
#1
Pia R Quitt, Marjo K Hytönen, Kaspar Matiasek, Marco Rosati, Andrea Fischer, Hannes Lohi
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds. Other clinical signs were excitement-induced upper airway stridor and oropharyngeal dysphagia. Myotonia congenita was diagnosed based on clinical signs, abundant myotonic discharges on electromyography and exclusion of structural myopathies on histology...
June 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30001928/sensitivity-and-clinical-utility-of-the-anti-cytosolic-5-nucleotidase-1a-cn1a-antibody-test-in-sporadic-inclusion-body-myositis-report-of-40-patients-from-a-single-neuromuscular-center
#2
Kevin J Felice, Charles H Whitaker, Qian Wu, Daniel T Larose, Guo Shen, Allan L Metzger, Randall W Barton
Sporadic inclusion body myositis (IBM) is the most common acquired myopathy affecting patients over age 50. The discovery of an autoantibody directed against a 43-44 kD protein (anti-cytosolic-5'-nucleotidase 1A or anti-cN1A) has provided support for the hypothesis of an immune-mediated pathogenesis. Previous studies have reported variable test sensitivity and specificity, and inconsistent results on the predictive value. In our cohort of 40 patients with clinico-pathologically or clinically defined IBM, we found the sensitivity of the anti-cN1A antibody test to be 50%...
June 18, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30001927/ketoacidosis-in-duchenne-muscular-dystrophy-a-report-on-4-cases
#3
T E Doris, A Bowron, A Armstrong, B Messer
The longer survival in Duchenne dystrophy can be associated with previously unrecognised medical issues, in particular cardiac and nutritional problems, which provide new challenges in the management of these patients. We describe a series of patients who have DMD presenting with severe acid base abnormalities due to ketoacidosis. The cases described all developed the abnormalities in the context of decreased dietary intake. In all cases, the acid-base derangement resolved with intravenous glucose infusion...
June 18, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30001926/charcot-marie-tooth-disease-type-4c-in-norway-clinical-characteristics-mutation-spectrum-and-minimum-prevalence
#4
Kjell Arne Arntzen, Helle Høyer, Kristin Ørstavik, Chantal Tallaksen, Christian Vedeler, Rune Østern, Maria Nebuchennykh, Geir Julius Braathen, Toril Fagerheim
Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records...
June 15, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29960818/nusinersen-in-type-1-sma-infants-children-and-young-adults-preliminary-results-on-motor-function
#5
Marika Pane, Concetta Palermo, Sonia Messina, Valeria A Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto de Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri
We report preliminary data on the six month use of Nusinersen in 104 type 1 patients of age ranging from three months to 19 years, 9 months. Ten of the 104 were classified as 1.1, 58 as 1.5 and 36 as 1.9. Three patients had one SMN2 copy, 65 had two and 24 had three copies. In 12 the SMN2 copy number was not available. After six months an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) on the Hammersmith Infant Neurological Examination (HINE)...
June 1, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29934118/homozygous-recessive-myh2-mutation-mimicking-dominant-myh2-associated-myopathy
#6
Andrew R Findlay, Matthew B Harms, Alan Pestronk, Conrad C Weihl
Mutations in MYH2 that encodes myosin heavy chain IIa cause both dominant and recessively inherited myopathies. Patients with dominantly inherited MYH2 missense mutations present with ophthalmoplegia and progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and inclusions, prompting this entity to initially be described as hereditary inclusion body myopathy 3. In contrast, patients with recessive MYH2 mutations have early onset, non-progressive, diffuse weakness and ophthalmoplegia. Muscle biopsy reveals near or complete absence of type 2A fibers with no vacuole or inclusion pathology...
May 21, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29935994/limb-girdle-muscular-dystrophy-2g-in-a-religious-minority-of-bulgarian-muslims-homozygous-for-the-c-75g-a-p-trp25x-mutation
#7
Teodora Chamova, Stoyan Bichev, Tihomir Todorov, Mariana Gospodinova, Ani Taneva, Kristina Kastreva, Dora Zlatareva, Martin Krupev, Rosen Hadjiivanov, Velina Guergueltcheva, Liliana Grozdanova, Dochka Tzoneva, Angela Huebner, Maja V der Hagen, Benedikt Schoser, Hanns Lochmüller, Albena Todorova, Ivailo Tournev
Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of p.Trp25X among 100 newborns in this region was found to be 2%. The clinical features in the Bulgarian TCAP group include disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs, followed or accompanied by difficulties in ankle dorsiflexion and involvement of the proximal muscles of the upper limbs 5-9 years after the disease onset...
May 17, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29910097/a-novel-compound-heterozygous-mutation-in-the-pomk-gene-causing-limb-girdle-muscular-dystrophy-dystroglycanopathy-in-a-sib-pair
#8
Sonja Strang-Karlsson, Katherine Johnson, Ana Töpf, Liwen Xu, Monkol Lek, Daniel G MacArthur, Olivera Casar-Borota, Maria Williams, Volker Straub, Carina Wallgren-Pettersson
We describe two Finnish siblings in whom an incidentally detected elevated creatine kinase activity eventually led to a diagnosis of limb-girdle muscular dystrophy-dystroglycanopathy (Type C12; MDDGC12). When diagnosed at age 10 and 13 years, they were mildly affected with a slow or non-progressive disease course. The main symptoms comprised infrequent hip cramps triggered by flexion, neck cramps triggered by yawning, transient growing pains, calf hypertrophy and mild proximal muscle weakness. Their cognitive and motor developments were unremarkable and they were physically active...
May 16, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29910096/nutrition-in-duchenne-muscular-dystrophy-16-18-march-2018-zaandam-the-netherlands
#9
Ingrid E C Verhaart, Lenie van den Engel-Hoek, Marta L Fiorotto, Mirjam Franken-Verbeek, Elizabeth Vroom
No abstract text is available yet for this article.
May 16, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29910095/sporadic-late-onset-nemaline-myopathy-with-monoclonal-gammopathy-of-undetermined-significance-slonm-mgus-an-alternative-treatment-using-cyclophosphamide-thalidomide-dexamethasone-ctd-regimen
#10
Theerawat Kumutpongpanich, Weerapat Owattanapanich, Jantima Tanboon, Ichizo Nishino, Kanokwan Boonyapisit
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance is a rare subacute adult-onset myopathy. Without appropriate treatment, the prognosis is unfavorable and can be fatal. Various efficacious treatment options have been reported. High dose melphalan followed by autologous stem cell transplantation is the most used option with favorable outcome. Nevertheless, potentially safer alternative regimens await exploration. Here, we report the case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance in a 33-year-old man with significant clinical improvement and complete remission of monoclonal gammopathy after 5 cycles of cyclophosphamide, thalidomide, and dexamethasone regimen...
May 16, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/30001929/novel-mutations-in-hint1-gene-cause-autosomal-recessive-axonal-neuropathy-with-neuromyotonia-in-two-cases-of-sensorimotor-neuropathy-and-one-case-of-motor-neuropathy
#11
Lingchao Meng, Jun Fu, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan
Autosomal recessive axonal neuropathy with neuromyotonia (ARANNM) is a rare disease caused by mutations of histidine triad nucleotide binding protein 1 (HINT1) gene. ARANNM has been reported mainly in European countries but little reported so far in China. We describe novel mutations of HINT1 in three Chinese patients with ARANNM from unrelated families. Patient 1 was a 14-year-old girl who presented with progressive distal weakness of upper limbs at two years of age. After that, she reported weakness of both feet, and difficulty in muscle relaxation after making a fist...
May 15, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29958823/skin-cells-for-use-in-an-alternate-diagnostic-method-for-duchenne-muscular-dystrophy
#12
Lynn Tyers, Lester M Davids, Jo M Wilmshurst, Alina I Esterhuizen
The importance of molecular diagnosis and identification of disease-associated variants for Duchenne muscular dystrophy (DMD) is evident in the age of gene-based therapies and personalised medicine. Detection of the causative DMD variant and determination of its effects on dystrophin expression is best achieved by analysis of RNA extracted from muscle biopsy material. However, this is not done routinely, as the procedure can be traumatic, especially to young children, and carries risk of complications related to the use of anaesthetic...
May 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29801751/female-dystrophinopathy-review-of-current-literature
#13
REVIEW
Masatoshi Ishizaki, Michio Kobayashi, Katsuhito Adachi, Tsuyoshi Matsumura, En Kimura
Skeletal muscle or cardiac symptoms are known to appear in a certain proportion of female patients carrying the dystrophin gene mutation. There is limited high-quality evidence to guide the treatment of female carriers of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD). The available evidence is mainly based on expert opinions and clinical experience. To improve this situation, we reviewed 1002 reports published from 1967 to 2017 to assess the following themes: epidemiology, clinical symptoms, cardiomyopathy, burdens on parents or caregivers, pregnancy or delivery, and prognosis...
May 2, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29778308/meeting-report-of-the-regulatory-exchange-matters-session-at-the-5th-international-treat-nmd-conference-lessons-in-communication-how-an-early-dialogue-between-patients-regulators-and-academics-can-further-therapy-development-for-neuromuscular-disorders-freiburg
#14
https://www.readbyqxmd.com/read/29779757/neutral-lipid-storage-disease-with-myopathy-further-phenotypic-characterization-of-a-rare-pnpla2-variant
#15
Caitlin S Latimer, Jennifer Schleit, Adam Reynolds, Desiree A Marshall, Benjamin Podemski, Leo H Wang, Luis F Gonzalez-Cuyar
Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a 32-year-old woman of Hmong descent with progressive muscle pain and weakness who had a muscle biopsy with characteristic features of a lipid storage myopathy...
April 19, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#16
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
June 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29754758/novel-valosin-containing-protein-mutations-associated-with-multisystem-proteinopathy
#17
Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimonis
Over fifty missense mutations in the gene coding for valosin-containing protein (VCP) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (IBM), Paget's disease of bone (PDB), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS). We report the clinical, histological, and molecular findings in four new patients/families carrying novel VCP mutations: c.474 G > A (p.M158I); c.478 G > C (p...
June 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29748118/diaphragmatic-dysfunction-as-the-presenting-symptom-in-neuromuscular-disorders-a-retrospective-longitudinal-study-of-etiology-and-outcome-in-30-german-patients
#18
Matthias Türk, Irina Weber, Gernot Vogt-Ladner, Rolf Schröder, Martin Winterholler
Diaphragmatic dysfunction is well-known in advanced stages of neuromuscular disorders. However, data on its presence as the presenting symptom in neuromuscular disorders is scarce. The goal of this retrospective longitudinal study was to evaluate the etiology and clinical outcome in patients, in whom uni- or bilateral diaphragmatic dysfunction was primarily diagnosed, before a specific neuromuscular disease was found. Patients with critical illness neuropathy/myopathy were excluded from this study. Analysis of the medical records of two tertiary referral centers for patients with neuromuscular diseases identified 30 corresponding patients with diaphragmatic dysfunction (17 unilateral; 13 bilateral)...
June 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29735270/a-zebrafish-model-for-fhl1-opathy-reveals-loss-of-function-effects-of-human-fhl1-mutations
#19
M Keßler, A Kieltsch, E Kayvanpour, H A Katus, B Schoser, J Schessl, S Just, W Rottbauer
Missense mutations in the four and a half LIM domain 1 (FHL1) gene were found to cause X-linked inherited myopathies of both skeletal and heart muscles. However, the mechanisms by which FHL1 mutations impact on FHL1 function and lead to alteration of muscle structure and function have not been deciphered yet. We generated here by Morpholino-modified antisense oligonucleotide-mediated gene knockdown fHL1-deficient zebrafish embryos. Similar to the human situation, fhl1a-morphants zebrafish displayed severe skeletal and heart muscle myopathy...
June 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29729827/association-of-mir-149-polymorphism-with-onset-age-and-severity-in-charcot-marie-tooth-disease-type-1a
#20
Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Min Hee Lee, Tae Hoon Kang, Sung-Chul Jung, Byung-Ok Choi, Ki Wha Chung
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a common single nucleotide polymorphism (n.86T > C, rs2292832) in the miR-149 which was predicted to target several CMT causing genes including PMP22...
June 2018: Neuromuscular Disorders: NMD
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