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Neuromuscular weakness

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https://www.readbyqxmd.com/read/29137918/spinobulbar-muscular-atrophy-combined-with-atypical-hereditary-neuropathy-with-liability-to-pressure-palsy
#1
Kyomin Choi, So Hyun Ahn, Seol-Hee Baek, Jun-Soon Kim, Seok-Jin Choi, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Jung-Joon Sung
Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We report a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62-year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29125635/a-review-of-the-diagnosis-and-treatment-of-periodic-paralysis
#2
REVIEW
Jeffrey M Statland, Bertrand Fontaine, Michael G Hanna, Nicholas Johnson, John T Kissel, Valeria A Sansone, Perry B Shieh, Rabi N Tawil, Jaya Trivedi, Stephen C Cannon, Robert C Griggs
Periodic paralyses (PP) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PP include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil Syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing...
November 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29125502/congenital-myasthenic-syndromes-or%C3%A2-inherited-disorders-of-neuromuscular-transmission-recent-discoveries-and%C3%A2-open%C3%A2-questions
#3
Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché, Bruno Eymard, Hanns Lochmüller, Clarke Slater
Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functions is quite well-understood for many of them. However, some of the most recent discoveries in individuals with CMS challenge our knowledge of the NMJ, where the basis of the pathology has mostly been investigated in animal models...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29125188/the-mouse-passive-transfer-model-of-musk-myasthenia-gravis-disrupted-musk-signaling-causes-synapse-failure
#4
REVIEW
Nazanin Ghazanfari, Sofie Trajanovska, Marco Morsch, Simon X Liang, Stephen W Reddel, William D Phillips
While the majority of myasthenia gravis patients express antibodies targeting the acetylcholine receptor, the second most common cohort instead displays autoantibodies against muscle-specific kinase (MuSK). MuSK is a transmembrane tyrosine kinase found in the postsynaptic membrane of the neuromuscular junction. During development, MuSK serves as a signaling hub, coordinating the alignment of the pre- and postsynaptic components of the synapse. Adult mice that received repeated daily injections of IgG from anti-MuSK(+) myasthenia gravis patients developed muscle weakness, associated with neuromuscular transmission failure...
November 10, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29121906/impaired-contractile-function-of-the-supraspinatus-in-the-acute-period-following-a-rotator-cuff-tear
#5
Ana P Valencia, Shama R Iyer, Espen E Spangenburg, Mohit N Gilotra, Richard M Lovering
BACKGROUND: Rotator cuff (RTC) tears are a common clinical problem resulting in adverse changes to the muscle, but there is limited information comparing histopathology to contractile function. This study assessed supraspinatus force and susceptibility to injury in the rat model of RTC tear, and compared these functional changes to histopathology of the muscle. METHODS: Unilateral RTC tears were induced in male rats via tenotomy of the supraspinatus and infraspinatus...
November 9, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29119577/enhancing-human-aspects-of-care-with-young-people-with-muscular-dystrophy-results-from-a-participatory-qualitative-study-with-clinicians
#6
J Setchell, P Thille, T Abrams, L C McAdam, B Mistry, B E Gibson
BACKGROUND: Most research into clinical care of Duchenne or Becker dystrophinopathies (MD) has focused on slowing progressive muscular weakness and extending lifespan. Scarce attention has been paid to the "human" aspects of care such as psychosocial health, living a fulfilling life, or dealing with disability stigma. This study partnered with clinicians to identify and address local and systemic barriers to these human aspects of care. METHODS: We employed a participatory qualitative design at a multidisciplinary MD clinic using 2 methods: (a) ethnographic observations over a 6-month period of clinic visits of children with MD and families, involving 12 clinicians, and (b) 3 "dialogues" (2-way discussions) with these clinicians to collaboratively analyze practices and co-produce recommendations for change...
November 8, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/29118959/congenital-myasthenic-syndrome-due-to-dok7-mutations-in-a-family-from-chile
#7
Jorge A Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vázquez, Ricardo A Maselli
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking...
June 27, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29116571/quality-of-life-in-adult-patients-with-limb-girdle-muscular-dystrophies
#8
Marina Peric, Stojan Peric, Jelena Stevanovic, Sara Milovanovic, Ivana Basta, Ana Nikolic, Aleksandra Kacar, Vidosava Rakocevic-Stojanovic
Although limb-girdle muscular dystrophies (LGMD) can cause permanent disability, to date there are no studies that examined quality of life (QoL) in these patients. Our aim was to evaluate QoL in patients with LGMD, and to identify the most significant predictors of QoL. The study comprised 46 patients with diagnosis of limb-girdle muscular weakness. QoL in patients was evaluated using two scales-SF-36 questionnaire and the Individualized Neuromuscular Quality of Life questionnaire (INQoL). Following scales were also applied: Epworth Sleepiness Scale (ESS), Hamilton Scale for Depression (HamD), and Krupp's Fatigue Severity Scale (FSS)...
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29115704/recessive-distal-motor-neuropathy-with-pyramidal-signs-in-an-omani-kindred-underlying-novel-mutation-in-the-sigmar1-gene
#9
Ramachandiran Nandhagopal, Douja Meftah, Sami Al-Kalbani, Patrick Scott
BACKGROUND: Distal hereditary motor neuropathy (dHMN) due to sigma nonopiod intracellular receptor 1 gene (SIGMAR1) mutation (OMIM 601978.0003) is a rare neuromuscular disorder characterized by prominent amyotrophic distal limb weakness and co-existing pyramidal signs initially described in a Chinese family in the recent year. We report an extended consanguineous Omani family segregating dHMN with pyramidal signs in an autosomal recessive pattern and describe a novel mutation in the SIGMAR1 gene underlying this motor phenotype...
November 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29090216/congenital-myasthenic-syndrome-in-a-mixed-breed-dog
#10
Theresa J Blakey, Jennifer R Michaels, Ling T Guo, Amy J Hodshon, G Diane Shelton
A 6-month-old, male, intact mixed breed dog was presented for a 3-month history of progressive generalized weakness. Neurologic examination revealed non-ambulatory tetraparesis, weakness of the head and neck, and decreased withdrawal reflexes in all limbs consistent with a generalized neuromuscular disorder. Electromyography and motor nerve conduction velocity were normal. Repetitive nerve stimulation showed a decremental response of the compound muscle action potential with improvement upon intravenous administration of edrophonium chloride...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/29071044/chiari-type-i-malformation-with-cervicothoracic-syringomyelia-subterfuge-as-flail-arm-syndrome
#11
Zhi Gang Lan, Seidu A Richard, Jiagang Liu, Chao You
Chiari type I malformation with cervicothoracic syringomyelia although very common in clinical practice usually in children can progress slowly and mimic muscular dystrophies in adulthood. We present a rare adult case of Chiari type I malformation with cervicothoracic syringomyelia subterfuge as Flail arm syndrome. A 44-year-old man was diagnosed with congenital type I Chiari malformation with cervicothoracic syringomyelia about 21 years ago without surgery. His health status deteriorated over the years until 21 days prior to presentation when he had severe pain in the right knee...
August 29, 2017: Neurology International
https://www.readbyqxmd.com/read/29068982/delayed-recovery-of-the-affected-finger-extensors-at-chronic-stage-in-a-stroke-patient-a-case-report
#12
Sung Ho Jang, Han Do Lee
RATIONALE: A 33-year-old male presented with complete weakness of the right extremities due to corona radiata infarct. PATIENT CONCERNS: The main concerns of the patient is recovery of hand function especially related to finger extension. DIAGNOSES: Right corona radiata infarct. INTERVENTIONS: He underwent physical therapy and occupational therapy at the outpatient clinic of the rehabilitation department of the same university hospital until 2 years after onset...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29068559/neuromuscular-synapse-electrophysiology-in-myasthenia-gravis-animal-models
#13
REVIEW
Jaap J Plomp, Maartje G M Huijbers, Jan J G M Verschuuren
The neuromuscular junction (NMJ) forms the synaptic connection between a motor neuron and a skeletal muscle fiber. In order to achieve a sustained muscle contraction, this synapse has to reliably transmit motor neuronal action potentials onto the muscle fiber. To guarantee successful transmission even during intense activation of the NMJ, a safety factor of neuromuscular transmission exists. In the neuromuscular disorder myasthenia gravis (MG), autoantibodies are directed against acetylcholine receptors or, in the rarer variants, against other postsynaptic NMJ proteins...
October 25, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29067656/imaging-analysis-of-the-neuromuscular-junction-in-dystrophic-muscle
#14
Stephen J P Pratt, Shama R Iyer, Sameer B Shah, Richard M Lovering
Duchenne muscular dystrophy (DMD), caused by the absence of the protein dystrophin, is characterized as a neuromuscular disease in which muscle weakness, increased susceptibility to muscle injury, and inadequate repair appear to underlie the pathology. Considerable attention has been dedicated to studying muscle fiber damage, but there is little information to determine if damage from contraction-induced injury also occurs at or near the nerve terminal axon. Interestingly, both human patients and the mouse model for DMD (the mdx mouse) present fragmented neuromuscular junction (NMJ) morphology...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29067653/clinical-manifestations-and-overall-management-strategies-for-duchenne-muscular-dystrophy
#15
Takeshi Tsuda
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29066856/modelling-acrylamide-acute-neurotoxicity-in-zebrafish-larvae
#16
Eva Prats, Cristian Gómez-Canela, Shani Ben-Lulu, Tamar Ziv, Francesc Padrós, Daniel Tornero, Natàlia Garcia-Reyero, Romà Tauler, Arie Admon, Demetrio Raldúa
Acrylamide (ACR), a type-2 alkene, may lead to a synaptopathy characterized by ataxia, skeletal muscles weakness and numbness of the extremities in exposed human and laboratory animals. Currently, only the mildly affected patients undergo complete recovery, and identification of new molecules with therapeutic bioactivity against ACR acute neurotoxicity is urgently needed. Here, we have generated a zebrafish model for ACR neurotoxicity by exposing 5 days post-fertilization zebrafish larvae to 1 mM ACR for 3 days...
October 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29066245/effects-of-neostigmine-or-edrophonium-on-force-of-contraction-when-administered-at-a-train-of-four-ratio-of-0-9-in-anesthetized-dogs
#17
Marta Romano, Manuel Martin-Flores, Daniel M Sakai, Chia T Tseng, Luis Campoy, Robin D Gleed
OBJECTIVE: Anticholinesterase drugs may produce paradoxical neuromuscular block when administered at shallow levels of neuromuscular block. The objective of this study was to evaluate the effects of neostigmine and edrophonium when administered at near-complete reversal from nondepolarizing block in anesthetized dogs. STUDY DESIGN: Incomplete crossover, randomized, blinded experimental study. ANIMALS: A total of 12 Beagle dogs. METHODS: Each dog was anesthetized twice with propofol and maintained with isoflurane and dexmedetomidine...
August 3, 2017: Veterinary Anaesthesia and Analgesia
https://www.readbyqxmd.com/read/29065712/comparison-of-whole-body-sod1-knockout-with-muscle-specific-sod1-knockout-mice-reveals-a-role-for-nerve-redox-signaling-in-regulation-of-degenerative-pathways-in-skeletal-muscle
#18
Giorgos Sakellariou, Brian McDonagh, Helen Porter, Ifigeneia Giakoumaki, Kate Earl, Gareth Nye, Aphrodite Vasilaki, Susan Brooks, Arlan Richardson, Holly Van Remmen, Anne McArdle, Malcolm Joseph Jackson
AIMS: Lack of CuZnSOD in homozygous knockout mice (Sod1-/-) leads to accelerated age-related muscle loss and weakness, but specific deletion of CuZnSOD in skeletal muscle(mSod1KO mice) or neurons (nSod1KO mice) resulted in only mild muscle functional deficits and failed to recapitulate the loss of mass and function observed in Sod1-/- mice. To dissect any underlying cross-talk between motor neurons and skeletal muscle in the degeneration in Sod1-/- mice, we characterized neuromuscular changes in the Sod1-/- model compared with mSod1KO mice and examined degenerative molecular mechanisms and pathways in peripheral nerve and skeletal muscle...
October 25, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29059108/neuromuscular-electrical-stimulation-superimposed-on-movement-early-after-acl-surgery
#19
Luciana Labanca, Jacopo Emanuele Rocchi, Luca Laudani, Rita Guitaldi, Alessandro Virgulti, Pier Paolo Mariani, Andrea Macaluso
PURPOSE: Quadriceps weakness and asymmetrical loading of lower limbs are two major issues following anterior cruciate ligament reconstruction (ACLR). The aim of this study was to evaluate the effectiveness of a 6-week training protocol involving neuromuscular electrical stimulations (NMES) of the quadriceps muscle superimposed on repeated sit-to-stand-to-sit exercises (STSTS), as an additional treatment to standard rehabilitation, from the 15th to the 60th day following ACLR. METHODS: Sixty-three ACLR patients were randomly allocated to one of the three treatment groups: NMES superimposed on STSTS (NMES+STSTS), STSTS only, or no additional treatment (NAT) to standard rehabilitation...
October 20, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29053893/unilateral-faciobrachial-weakness-an-unusual-neuromuscular-presentation-of-west-nile-virus-infection
#20
Ahmed M El-Dokla, Rashedul Hasan, Sara T Ali
No abstract text is available yet for this article.
October 20, 2017: Muscle & Nerve
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