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neuromuscular respiratory disorders

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https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#1
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#2
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29067658/proteomic-profiling-of-the-dystrophin-deficient-brain
#3
Sandra Murphy, Kay Ohlendieck
Duchenne muscular dystrophy is a highly progressive neuromuscular disorder caused by primary abnormalities in the Dmd gene encoding the membrane cytoskeletal protein dystrophin. Dystrophinopathies are multi-systems disorders that are characterized by severe skeletal muscle wasting, with loss of independent ambulation in the early teenage years, followed by cardio-respiratory complications and premature death. Nonprogressive cognitive impairments are estimated to affect approximately one-third of dystrophic children...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28985942/effects-of-pyridostigmine-bromide-on-sh-sy5y-cells-an-in-vitro-neuroblastoma-neurotoxicity-model
#4
VerÔnica Farina Azzolin, Fernanda Barbisan, Luana Suéling Lenz, Cibele Ferreira Teixeira, Milena Fortuna, Thiago Duarte, Marta Maria Frescura Medeiros Duarte, Ivana Beatrice Mânica da Cruz
Pyridostigmine bromide (PB) is a reversible acetylcholinesterase (AChE) inhibitor and the first-choice for the treatment of symptoms associated with myasthenia gravis and other neuromuscular junction disorders. However, evidence suggested that PB could be associated with the Gulf War Illness characterised by the presence of fatigue, headaches, cognitive dysfunction, and musculoskeletal respiratory and gastrointestinal disturbances. Given that a potential neurotoxic effect of PB has not yet been completely elucidated, the present investigation used neural SH-SY5Y cells to evaluate the effect of PB on the cellular viability, cell apoptosis, modulation of the cell cycle, oxidative stress, and genotoxicity variables, which indicate neurodegeneration...
November 2017: Mutation Research
https://www.readbyqxmd.com/read/28971036/noninvasive-respiratory-management-of-patients-with-neuromuscular-disease
#5
REVIEW
John R Bach
This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623 spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis users of noninvasive ventilatory support (NVS) of whom 760 required it continuously (CNVS). The CNVS sustained their lives by over 3,000 patient-years without resort to indwelling tracheostomy tubes...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28967584/telemedicine-for-facio-scapulo-humeral-muscular-dystrophy-a-multidisciplinary-approach-to-improve-quality-of-life-and-reduce-hospitalization-rate
#6
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28962809/primary-acute-neuromuscular-respiratory-failure
#7
REVIEW
Sara Hocker
Neurologists are often called to evaluate patients with both defined and undiagnosed neuromuscular disorders when respiratory failure develops to determine if there is a neuromuscular cause. Being able to confidently diagnose neuromuscular respiratory failure and intervene appropriately is imperative, as early intervention and determination of the cause have survival implications. Outcomes are poor when the cause of neuromuscular weakness and resultant respiratory failure cannot be identified. This review discusses the clinical recognition of primary neuromuscular respiratory failure, its pathophysiology, diagnostic evaluation, and management, focusing on management of respiratory failure in the setting of Guillain-Barré syndrome and myasthenic crisis...
November 2017: Neurologic Clinics
https://www.readbyqxmd.com/read/28941526/pediatric-myasthenia-gravis
#8
Jason H Peragallo
Myasthenia gravis is a disorder of neuromuscular transmission that leads to fatigue of skeletal muscles and fluctuating weakness. Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myasthenic syndromes, and juvenile myasthenia gravis (JMG). JMG is an autoimmune disorder that has a tendency to affect the extraocular muscles, but can also affect all skeletal muscles leading to generalized weakness and fatigability. Respiratory muscles may be involved leading to respiratory failure requiring ventilator support...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28941227/noninvasive-airway-approaches-for-acute-neuromuscular-respiratory-failure-in-emergency-departments
#9
Tai-Heng Chen, Jong-Hau Hsu, Yuh-Jyh Jong
Emerging evidence advocates for noninvasive ventilation (NIV) combined with mechanical in-exsufflation (MIE) as a first-line approach for acute respiratory failure (ARF) in patients with neuromuscular disorders (NMD). To date, most NIV studies of ARF in NMD patients have been performed in intensive care units or in hospital settings. However, the utility of using combined NIV/MIE in the emergency department (ED) settings is unclear. We report on the implementation of NIV/MIE in two children with type II spinal muscular atrophy who presented to the ED with ARF...
October 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28937031/a-novel-agrn-mutation-leads-to-congenital-myasthenic-syndrome-only-affecting-limb-girdle-muscle
#10
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree. METHODS: We performed a detailed clinical assessment of a Chinese family with three affected members...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28916122/myasthenia-gravis-and-crisis-evaluation-and-management-in-the-emergency-department
#11
Jamie Roper, M Emily Fleming, Brit Long, Alex Koyfman
BACKGROUND: Myasthenia gravis (MG) is an uncommon autoimmune disorder affecting the neuromuscular junction and manifesting as muscle weakness. A multitude of stressors can exacerbate MG. When symptoms are exacerbated, muscle weakness can be severe enough to result in respiratory failure, a condition known as myasthenic crisis (MC). OBJECTIVE: This review discusses risk factors, diagnosis, management, and iatrogenic avoidance of MC. DISCUSSION: MC can affect any age, ethnicity, or sex and can be precipitated with any stressor, infection being the most common...
September 12, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#12
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28887062/diaphragm-dysfunction-in-critical-illness
#13
REVIEW
Gerald S Supinski, Peter E Morris, Sanjay Dhar, Leigh Ann Callahan
The diaphragm is the major muscle of inspiration, and its function is critical for optimal respiration. Diaphragmatic failure has long been recognized as a major contributor to death in a variety of systemic neuromuscular disorders. More recently, it is increasingly apparent that diaphragm dysfunction is present in a high percentage of critically ill patients and is associated with increased morbidity and mortality. In these patients, diaphragm weakness is thought to develop from disuse secondary to ventilator-induced diaphragm inactivity and as a consequence of the effects of systemic inflammation, including sepsis...
September 5, 2017: Chest
https://www.readbyqxmd.com/read/28875277/-critical-illness-myopathy-and-polyneuropathy
#14
REVIEW
D Senger, F Erbguth
An average of 50-80% of patients treated in the intensive care unit is affected by disturbances of neuromuscular functions due to damage to the nerves and muscles, which has led to the terms critical illness polyneuropathy and myopathy. Both components occur in 30-50% of patients, while the others predominantly show a pure myopathy, while pure neuropathy is rare. Meanwhile, the descriptive term of the concept as intensive care unit-acquired weakness (ICUAW) is preferred. The most significant risk factors for the development of ICUAW are sepsis, multiorgan dysfunction and acute respiratory distress syndrome (ARDS)...
October 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28842446/a-natural-history-study-of-x-linked-myotubular-myopathy
#15
Kimberly Amburgey, Etsuko Tsuchiya, Sabine de Chastonay, Michael Glueck, Rachel Alverez, Cam-Tu Nguyen, Anne Rutkowski, Joseph Hornyak, Alan H Beggs, James J Dowling
OBJECTIVE: To define the natural history of X-linked myotubular myopathy (MTM). METHODS: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33). RESULTS: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86...
September 26, 2017: Neurology
https://www.readbyqxmd.com/read/28838325/a-study-on-the-safety-and-efficacy-of-reveglucosidase-alfa-in-patients-with-late-onset-pompe-disease
#16
Barry J Byrne, Tarekegn Geberhiwot, Bruce A Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system...
August 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28834910/application-of-different-ventilator-modes-in-patients-with-amyotrophic-lateral-sclerosis-according-to-certain-clinical-situations-a-case-report
#17
Donghwi Park
RATIONALE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that involves limb, axial, bulbar, and respiratory muscles. Fatigue and weakness of the respiratory muscles eventually induce respiratory insufficiency, which is one of the main causes of death in patients with ALS. In ALS patients with respiratory insufficiency, application of a ventilator is indispensable. Although there are various modes of ventilation, these modes are classified roughly into volume-controlled ventilation (VCV) and pressure-controlled ventilation (PCV)...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28834052/incidence-of-obstructive-sleep-apnea-in-elderly-edentulous-patients-and-the-possible-correlation-of-serum-serotonin-and-apnea-hypopnea-index
#18
Arvind Tripathi, Soumyojeet Bagchi, Juhi Singh, Suryakant Tripathi, Narendra Kumar Gupta, Varun Arora
PURPOSE: To estimate the incidence of obstructive sleep apnea (OSA) in elderly edentulous patients (aged 60-65 years) and investigate a correlation of serum serotonin levels with the apnea-hypopnea index (AHI), respiratory effort-related arousal (RERA), and respiratory disturbance index (RDI). MATERIALS AND METHODS: 381 elderly completely edentulous patients (307 male, 74 female) aged 60 to 65 years with a history of edentulism of 12 to 15 months, seeking oral rehabilitation at the prosthodontic clinic at Saraswati Dental College & Hospital, Lucknow, India, between January 2014 and January 2016 were enrolled for the present study...
August 21, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#19
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#20
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
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