journal
MENU ▼
Read by QxMD icon Read
search

Neuromuscular Disorders: NMD

journal
https://www.readbyqxmd.com/read/28645460/associations-between-timing-of-corticosteroid-treatment-initiation-and-clinical-outcomes-in-duchenne-muscular-dystrophy
#1
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/28648683/reliability-and-validity-analyses-of-the-north-star-ambulatory-assessment-in-brazilian-portuguese
#2
Larissa O Okama, Lívia M Zampieri, Carina L Ramos, Flávia O Toledo, Cyntia R J Alves, Ana Cláudia Mattiello-Sverzut, Anna Mayhew, Cláudia F R Sobreira
The North Star Ambulatory Assessment measures motor performance in ambulatory boys with Duchenne muscular dystrophy, a hereditary and degenerative muscle disorder. To use the North Star Ambulatory Assessment in Brazilian boys, we performed the cross-cultural adaptation to the Portuguese language spoken in Brazil and evaluated the reliability and validity of the instrument. Cross-cultural adaptation included: independent translations, synthesis, committee review, pre-testing in 12 boys, back-translation and comparison with the original instrument...
May 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624463/insights-from-genotype-phenotype-correlations-by-novel-speg-mutations-causing-centronuclear-myopathy
#3
Haicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, Fabiana Fattori, Serdar Pekuz, Diego Araneda, Hüseyin Per, Ricardo Erazo, Hakan Gümüş, Suzan Zorludemir, Kerstin Becker, Ximena Ortega, Jorge Alfredo Bevilacqua, Enrico Bertini, Sebahattin Cirak
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG)...
May 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629674/cystinosis-distal-myopathy-novel-clinical-pathological-and-genetic-features
#4
Macarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G Laing, Conrad C Weihl, Phillipa J Lamont
Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement...
May 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28606402/clinical-histological-and-radiological-responses-to-methylprednisolone-in-hiv-associated-rod-myopathy
#5
André M S Silva, Rodrigo H Mendonça, Cristiane A M Moreno, Eduardo P Estephan, Paulo V P Helito, Mary S Carvalho, Edmar Zanoteli
Skeletal muscle involvement as a neurologic manifestation in individuals with HIV is rare, especially as rod myopathy. We describe a 41-year-old male with HIV infection who presented progressive proximal muscle weakness and limb-girdle atrophy. A muscle magnetic resonance image showed bilateral fatty infiltration and post-contrast enhancement in the arm and thigh muscles. The muscle biopsy revealed intracytoplasmic aggregates with appearance of nemaline rod bodies with Gomori trichrome staining and electron microscopy in most fibers...
May 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28606401/monoclonal-gammopathy-with-both-nemaline-myopathy-and-amyloid-myopathy
#6
Min Wang, Lin Lei, Hai Chen, Li Di, Mi Pang, Yan Lu, Lu Lu, Xin-Ming Shen, Yuwei Da
Monoclonal gammopathies due to plasma cell dyscrasias can induce diverse rare neuromuscular disorders. Deposition of monoclonal antibody light chains in skeletal muscle causes amyloid myopathy. Monoclonal gammopathy is occasionally associated with sporadic late-onset nemaline myopathy. Here we report a monoclonal gammopathy patient with both sporadic late-onset nemaline myopathy and amyloid myopathy. The diagnoses were based on immunofixation electrophoresis of urine, and serum for free light chain assay, Congo red staining and Thioflavin S staining of muscle biopsies, as well as immunohistochemical staining and electron-microscopic observation...
May 11, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622964/grand-paternal-inheritance-of-x-linked-myotubular-myopathy-due-to-mosaicism-and-identification-of-necklace-fibers-in-an-asymptomatic-male
#7
Carola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, Mar Tulinius, Anders Oldfors
X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother. Here we describe a family with unexpected grand paternal transmission of a novel mutation in MTM1 (c.646_648dupGTT; p.Val216dup) identified in a severely affected infant boy with a centronuclear myopathy. We confirmed the carrier status of the mother, but surprisingly we found that her father was a carrier of the mutated MTM1 gene together with wild-type MTM1...
May 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#8
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#9
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#10
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#11
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28629675/misdiagnosis-is-an-important-factor-for-diagnostic-delay-in-mcardle-disease
#12
Renata Siciliani Scalco, Jasper M Morrow, Suzanne Booth, Sherryl Chatfield, Richard Godfrey, Ros Quinlivan
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45)...
May 3, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28601553/skeletal-muscle-water-t2-as-a-biomarker-of-disease-status-and-exercise-effects-in-patients-with-duchenne-muscular-dystrophy
#13
Ami Mankodi, Noura Azzabou, Thomas Bulea, Harmen Reyngoudt, Hirity Shimellis, Yupeng Ren, Eunhee Kim, Kenneth H Fischbeck, Pierre G Carlier
The purpose of this study was to examine exercise effects on muscle water T2 in patients with Duchenne muscular dystrophy (DMD). In 12 DMD subjects and 19 controls, lower leg muscle fat (%) was measured by Dixon and muscle water T2 and R2 (1/T2) by the tri-exponential model. Muscle water R2 was measured again at 3 hours after an ankle dorsiflexion exercise. The muscle fat fraction was higher in DMD participants than in controls (p < .001) except in the tibialis posterior muscle. Muscle water T2 was measured independent of the degree of fatty degeneration in DMD muscle...
April 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28602176/calpainopathy-with-macrophage-rich-regional-inflammatory-infiltrates
#14
Peter W Schutz, Renata S Scalco, Rita Barresi, Henry Houlden, Matthew Parton, Janice L Holton
Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. We present the case of a 33-year old female with mild proximal muscle weakness and high CK levels (6698 IU/L at presentation). Muscle biopsy showed clusters of fibre necrosis associated with very dense macrophage infiltrates and small numbers of lymphocytes, raising the possibility of an inflammatory myopathy...
April 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28606403/diaphragmatic-dysfunction-in-sepn1-related-myopathy
#15
Serena Caggiano, Sonia Khirani, Ivana Dabaj, Eliana Cavassa, Alessandro Amaddeo, Jorge Olmo Arroyo, Isabelle Desguerre, Pascale Richard, Renato Cutrera, Ana Ferreiro, Brigitte Estournet, Susana Quijano-Roy, Brigitte Fauroux
SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 years (1 adult) at first respiratory muscle test were studied. Five patients were treated by nocturnal noninvasive ventilation (NIV)  ≥ 4 months...
April 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#16
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28625604/225th-enmc-international-workshop-a-global-fshd-registry-framework-18-20-november-2016-heemskerk-the-netherlands
#17
Karlien Mul, June Kinoshita, Hugh Dawkins, Baziel van Engelen, Rossella Tupler
No abstract text is available yet for this article.
April 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28554558/novel-truncating-variant-in-dna2-related-congenital-onset-myopathy-and-ptosis-suggests-genotype-phenotype-correlation
#18
P Phowthongkum, A Sun
DNA2 encodes a protein with nuclease, ATPase, and helicase domains, and serves to maintain mitochondrial DNA integrity. Mutations in DNA2 cause autosomal dominant progressive ophthalmoplegia with mitochondrial DNA deletions. This disorder was first reported in four patients with heterozygous, missense mutations in DNA2. Clinical symptoms include limb-girdle and lower extremity weakness, myalgia, and ophthalmoplegia. All had a slowly progressive disease course and did not present for clinical evaluation until the fifth or sixth decade...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28554556/dramatic-elevation-in-urinary-amino-terminal-titin-fragment-excretion-quantified-by-immunoassay-in-duchenne-muscular-dystrophy-patients-and-in-dystrophin-deficient-rodents
#19
Alan S Robertson, Mark J Majchrzak, Courtney M Smith, Robert C Gagnon, Nino Devidze, Glen B Banks, Sean C Little, Fizal Nabbie, Denise I Bounous, Janet DiPiero, Leslie K Jacobsen, Linda J Bristow, Michael K Ahlijanian, Stephen A Stimpson
Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin excretion was seen in Duchene muscular dystrophy (DMD) patients. Urinary N-ter titin was also evaluated in dystrophin deficient rodent models...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#20
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 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"