journal
MENU ▼
Read by QxMD icon Read
search

Neuromuscular Disorders: NMD

journal
https://www.readbyqxmd.com/read/29402602/genotype-and-phenotype-analysis-of-43-iranian-facioscapulohumeral-muscular-dystrophy-patients-evidence-for-anticipation
#1
Afagh Alavi, Sara Esmaeili, Shahriar Nafissi, Kimia Kahrizi, Hossein Najmabadi
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy (prevalence 1/8300-1/20,000). It is typically characterized by progressive weakness of facial, scapular and humeral muscles. Pelvic, abdominal and lower limbs muscles may eventually be affected. FSHD is classified into two subgroups, FSHD1 and FSHD2. FSHD1 is due to a reduction in the copy number of D4Z4 macrosatellites on chromosome 4q35 (11-100 repeats in normal individuals and 1-10 repeats in patients), and FSHD2 is caused by mutations in SMCHD1 or DNMT3B...
January 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29433793/correlation-between-sma-type-and-smn2-copy-number-revisited-an-analysis-of-625-unrelated-spanish-patients-and-a-compilation-of-2834-reported-cases
#2
Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá, Francisco J Rodríguez-Álvarez, Elena Aller, Raquel M Fernández, Salud Borrego, José M Millán, Concepción Hernández-Chico, Ivon Cuscó, Pablo Fuentes-Prior, Eduardo F Tizzano
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified into type I (never sit), II (never walk unaided) or III (achieve independent walking abilities). SMN2, the highly homologous copy of SMN1, is considered the most important phenotypic modifier of the disease. Determination of SMN2 copy number is essential to establish careful genotype-phenotype correlations, predict disease evolution, and to stratify patients for clinical trials...
January 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29402601/mitophagy-in-three-cases-of-immune-mediated-necrotizing-myopathy-associated-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-autoantibodies-ultrastructural-and-immunohistochemical-studies
#3
Shiro Matsubara, Kota Bokuda, Yuri Asano, Ryo Morishima, Keizo Sugaya, Kazuhito Miyamoto, Reiji Koide, Takashi Komori, Shigeaki Suzuki, Ichizo Nishino
Immune-mediated necrotizing myopathy (IMNM) associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies occurs in patients both with and without history of statin-intake. The mechanisms of muscle fiber degeneration in this condition remain unknown. We studied pathological changes in muscle biopsies from three patients lacking history of statin-intake. Ultrastructural observations showed accumulation of degenerating mitochondria, glycogen granules and autophagic vacuoles, forming large composites in three cases, along with various nonspecific changes...
January 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29426734/inclusion-body-myositis-and-human-immunodeficiency-virus-type-1-a-new-case-report-and-literature-review
#4
Priscille Couture, Edoardo Malfatti, Geneviève Morau, Alexis Mathian, Fleur Cohen-Aubart, Hubert Nielly, Zahir Amoura, Patrick Cherin
Prevalence of muscle disease in human immunodeficiency virus (HIV) infection is less than 1% of patients with acquired immune deficiency syndrome. Sporadic inclusion body myositis (IBM) is observed in a few cases of patients infected by retroviruses such as HIV-1. A Caucasian man was diagnosed with HIV when he was 30 years old. The viral load was undetectable and CD4 cell count was 600/mm3 when the diagnosis of inclusion body myositis was confirmed. Histological findings were typical of IBM. The treatment consisted of immunoglobulin therapy for three years without effect...
January 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29422440/gyg1-causing-progressive-limb-girdle-myopathy-with-onset-during-teenage-years-polyglucosan-body-myopathy-2
#5
Mahalekshmi Desikan, Renata Siciliani Scalco, Andreea Manole, Alice R Gardiner, Anthony H Schapira, Robin H Lachmann, Henry Houlden, Janice L Holton, Rahul Phadke, Ros Quinlivan
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported...
January 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29361394/falls-and-resulting-fractures-in-myotonic-dystrophy-results-from-a-multinational-retrospective-survey
#6
A C Jiménez-Moreno, J Raaphorst, H Babačić, L Wood, B van Engelen, H Lochmüller, B Schoser, S Wenninger
Myotonic Dystrophy type 1 multisystem involvement leads to functional impairment with an increased risk of falling. This multinational study estimates the prevalence of falls and fall-associated fractures. A web-based survey among disease-specific registries (Germany, UK and The Netherlands) was carried out among DM1 ambulant adults with a total of 573 responses retrieved. Results provided a risk ratio estimation of 30%-72% for falls and of 11%-17% for associated fractures. There was no significant difference for falls between male and female, but there was for fall-related fractures with a higher prevalence in women...
December 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29398295/genotype-and-other-determinants-of-respiratory-function-in-myotonic-dystrophy-type-1
#7
Ghilas Boussaïd, Karim Wahbi, Pascal Laforet, Bruno Eymard, Tanya Stojkovic, Anthony Behin, Annane Djillali, David Orlikowski, Hélène Prigent, Frédéric Lofaso
New treatments are being developed for myotonic dystrophy type 1 (DM1). To evaluate their efficacy, knowledge about the natural history of respiratory dysfunction and its relationship with the genotype will be crucial. Also needed is information on factors predicting the time-course of respiratory function in DM1. Using data from 283 patients, we built a segmented linear mixed-effects regression model to assess respiratory function changes over time. Respiratory variables associated with the CTG repeat number were identified by multivariate linear regression analysis...
December 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#8
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
December 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395671/a-database-for-screening-and-registering-late-onset-pompe-disease-in-turkey
#9
Munevver Celik Gokyigit, Hakan Ekmekci, Hacer Durmus, Necdet Karlı, Emel Koseoglu, Fikret Aysal, Dilcan Kotan, Asuman Ali, Pınar Kahraman Koytak, Hatice Karasoy, Aylin Yaman, İhsan Sukru Sengun, Refah Sayin, Bedile Irem Tiftikcioglu, Aysun Soysal, Kemal Tutkavul, Ayse Oytun Bayrak, Aysin Kısabay, Mehmet Ali Elci, Vildan Yayla, İbrahim Arda Yılmaz, Sevim Erdem Ozdamar, Cagdas Erdogan, Nebahat Tasdemir, Piraye Serdaroglu Oflazer
The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD...
December 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29361396/childhood-onset-form-of-myotonic-dystrophy-type-1-and-autism-spectrum-disorder-is-there-comorbidity
#10
N Angeard, E Huerta, A Jacquette, D Cohen, J Xavier, M Gargiulo, L Servais, B Eymard, D Héron
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD)...
December 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395672/dok7-myasthenic-syndrome-with-subacute-adult-onset-during-pregnancy-and-partial-response-to-fluoxetine
#11
Mariana Santos, Simão Cruz, João Peres, Luís Santos, Purificação Tavares, Jorge Pinto Basto, Vasco Salgado, Ana Herrero Valverde
DOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of steroids, intravenous human immunoglobulin (IVIG) and plasma exchange (PLEX) led to the presumptive diagnosis of a CMS...
December 13, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395674/specific-muscle-strength-is-reduced-in-facioscapulohumeral-dystrophy-an-mri-based-musculoskeletal-analysis
#12
Marco A Marra, Linda Heskamp, Karlien Mul, Saskia Lassche, Baziel G M van Engelen, Arend Heerschap, Nico Verdonschot
The aim was to test whether strength per unit of muscle area (specific muscle strength) is affected in facioscapulohumeral dystrophy (FSHD) patients, as compared to healthy controls. Ten patients and ten healthy volunteers underwent an MRI examination and maximum voluntary isometric contraction measurements (MVICs) of the quadriceps muscles. Contractile muscle volume, as obtained from the MR images, was combined with the MVICs to calculate the physiological cross-sectional area (PCSA) and muscle strength using a musculoskeletal model...
December 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29361395/hereditary-myopathy-with-early-respiratory-failure-hmerf-still-rare-but-common-enough
#13
REVIEW
Giorgio Tasca, Bjarne Udd
Phenotypic and genetic/allelic heterogeneity is a feature of many neuromuscular disorders, titinopathies being one of them. Hereditary Myopathy with Early Respiratory Failure (HMERF) has been considered an extremely rare disease with definite clinicopathologic hallmarks, and geographically restricted to the Northern European population with one single titin gene defect identified in previous years. The recent availability of massive parallel sequencing techniques, allowing the screening of all coding regions of the genome in undiagnosed patients, together with a growing awareness of the main muscle MRI features of the disease, has led to the discovery of a number of HMERF families and new titin mutations in the last five years...
December 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29246662/corrigendum-to-a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy-neuromuscular-disorders-27-11-2017-1043-1046
#14
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
No abstract text is available yet for this article.
December 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29373175/a-novel-point-mutation-affecting-asn76-of-dystrophin-protein-leads-to-dystrophinopathy
#15
Katalin Koczok, Gabriella Merő, Gabriella P Szabó, László Madar, Éva Gombos, Éva Ajzner, János András Mótyán, Tibor Hortobágyi, István Balogh
Mutations in the DMD gene lead to Duchenne and Becker muscular dystrophy (DMD/BMD). Missense mutations are rare cause of DMD/BMD. A six-month-old male patient presented with mild generalized muscle weakness, hypotonia, and delayed motor development. Dystrophinopathy was suspected because of highly elevated serum creatine kinase level (1497 U/L) and tiered DMD gene analysis was performed. Multiplex ligation-dependent probe amplification (MLPA) assay showed deletion of exon 4, which could not be confirmed by another method...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29358018/non-invasive-mechanical-ventilation-in-myotonic-dystrophy-type-1-hypoventilation-versus-quality-of-life-prespective
#16
LETTER
Giuseppe Fiorentino, Antonio M Esquinas
No abstract text is available yet for this article.
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29352628/non-invasive-mechanical-ventilation-in-myotonic-dystrophy-type-1-hypoventilation-versus-quality-of-life-perspective
#17
LETTER
Ghilas Boussaid, Frédéric Lofaso, David Orlikowski, Dante Santos Brasil, Stéphane Bahrami, Hélène Prigent
No abstract text is available yet for this article.
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#18
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29305139/cognitive-profile-in-duchenne-muscular-dystrophy-boys-without-intellectual-disability-the-role-of-executive-functions
#19
R Battini, D Chieffo, S Bulgheroni, G Piccini, C Pecini, S Lucibello, S Lenzi, F Moriconi, M Pane, G Astrea, G Baranello, P Alfieri, S Vicari, D Riva, G Cioni, E Mercuri
The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duchenne boys (range of age: 6 years to 11 years and 6 months) were assessed by Wechsler Intelligence scale and battery of tests including tasks assessing working memory and executive functions (inhibition and switching, problem solving and planning). In our cohort some aspects of cognitive function were often impaired...
December 6, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29339009/a-boy-with-neck-weakness
#20
Uluç Yiş, Kerstin Becker, Sebahattin Çırak
No abstract text is available yet for this article.
December 5, 2017: Neuromuscular Disorders: NMD
journal
journal
30818
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"