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spinal muscular atrophy AND medical management

Didu Kariyawasam, Kate A Carey, Kristi J Jones, Michelle A Farrar
Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (SMA), including measures to selectively address Survival Motor Neuron (SMN) protein deficiency with SMN1 gene replacement or modulation of SMN2 encoded protein levels, as well as neuroprotective approaches and supporting muscle strength and function. This review highlights these novel therapies. This is particularly vital with the advent of the first disease modifying therapy, which has brought to the fore an array of questions surrounding who, how and when to treat, and stimulated challenges in resource limited healthcare systems to streamline access for those eligible for drug therapy...
April 5, 2018: Paediatric Respiratory Reviews
Ioannis N Mammas, Demetrios A Spandidos
According to Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School and Director of the Spinal Muscular Atrophy (SMA) Program at Boston Children's Hospital in Boston (MA, USA), the diagnosis of SMA type I is clinical and is based on detailed general physical and neurological examinations. SMA type I remains the most common genetic disease resulting in death in infancy and is really devastating for the child, the parents, as well as the medical professionals with the privilege of caring for patients with SMA and their parents...
April 2018: Experimental and Therapeutic Medicine
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi J Jones, Manoj P Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian R Woodcock, Eppie M Yiu, Hugo Sampaio, Monique M Ryan
BACKGROUND: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1. METHODS: An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Richard S Finkel, Eugenio Mercuri, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, Thomas Sejersen
This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease...
March 2018: Neuromuscular Disorders: NMD
Eugenio Mercuri, Richard S Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H Meyer, Anita K Simonds, Mary K Schroth, Robert J Graham, Janbernd Kirschner, Susan T Iannaccone, Thomas O Crawford, Simon Woods, Ying Qian, Thomas Sejersen
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management...
February 2018: Neuromuscular Disorders: NMD
S Monges, A L Rosa
Latin America (LA) has a population of ~645 million people distributed over 33 countries with marked political, cultural and economic differences. In LA, patients with inherited neuromuscular diseases (NMDs) often do not have access to specialized medical centers and many of them go undiagnosed. General management and care of spinal muscular dystrophy (SMA) patients in the region varies due to heterogeneous health care. An active generation of young clinical neurologists is being trained for the specialized care of SMA and other neuromuscular (NM) patients, both in the private and public sectors...
September 2017: Gene Therapy
Jaysson T Brooks, Paul D Sponseller
BACKGROUND: Patients with neuromuscular scoliosis (NMS) can pose treatment challenges related to medical comorbidities and altered spinopelvic anatomy. We reviewed the recent literature regarding evaluation and management of NMS patients and explored areas where further research is needed. METHODS: We searched the PubMed database for all papers related to the treatment of NMS published from January 1, 2011 through July 31, 2014, yielding 70 papers. RESULTS: A total of 39 papers contributed compelling new findings...
September 2016: Journal of Pediatric Orthopedics
Esther Carbó, Óscar Riquelme, Azucena García, José Luis González
PURPOSE: To describe our experience using balloon vertebroplasty with polymethylmethacrylate filler in a 10-year-old boy with Gorham-Stout syndrome. Gorham-Stout syndrome is a rare disorder of unknown etiology characterized by intraosseous proliferation of fibrovascular or lymphatic tissue that results in progressive osteolysis and bone destruction. It can affect any part of the skeleton and lead to pathological fractures and muscular weakness or atrophy. The literature contains few reports on the surgical management of vertebral osteolysis with risk of fracture in children...
May 2015: European Spine Journal
Leanne M Gauld, Lucy A Keeling, Claire E Shackleton, Peter D Sly
BACKGROUND: Spinal muscular atrophy (SMA) causes respiratory compromise that is difficult to assess in young children. The forced oscillation technique (FOT) is commercially available for children as young as 2 years of age and is nonvolitional. The aim of this study was to assess the usefulness of FOT in young children with SMA. METHODS: Children with SMA aged < 10 years were recruited. FOT was performed every 3 months for 12 months (five visits). Spirometry and assisted and unassisted peak cough flow (PCF) were performed where possible...
September 2014: Chest
Zacil Vilchis, Nayelli Najera, Javier Pérez-Duran, Zenyesen Najera, Lourdes Gonzalez, Maria del Refugio Rivera, Gloria Queipo
Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have an important and classifiable genetic background. Identification of the specific disorder can help optimize the management and treatment of the patient and inform genetic counseling for the family, and therefore input from clinical geneticists is critical at the earliest stages of medical management. Here we present 30 patients with hypotonia of unknown etiology referred by a neuropediatrician to clinical genetics...
July 2014: American Journal of Medical Genetics. Part A
Felicity Kate Boardman
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters. Such writers argue that prenatal testing and selective termination practices are objectionable as they express disvalue not only of the foetus being tested, but also of disabled people as a whole, by focusing exclusively on the disabling trait. While the objection has been widely critiqued on the basis of its theoretical incoherence, this paper highlights the way in which it, nevertheless, is a significant mediator in decisions around the use of reproductive genetic technologies...
April 2014: Social Science & Medicine
Rebecca Hurst Davis, Barbara J Godshall, Erin Seffrood, Mary Marcus, Bernard A LaSalle, Brenda Wong, Mary K Schroth, Kathryn J Swoboda
Proactive nutritional management for children with spinal muscular atrophy type I can provide insight into improved spinal muscular atrophy care. This observational study consisted of a nutritional and medical history survey of children with spinal muscular atrophy type I collected in 2009-2011. Forty-four caregiver survey responses were evaluated using descriptive statistics. Average age of spinal muscular atrophy type I subjects was 5 years (5 mo-16 y). The subject cohort was composed of 22 males, 21 females, and 1 unreported...
November 2014: Journal of Child Neurology
Michel Vanasse, Hélène Paré, Reinhard Zeller
Most neuromuscular diseases (NMD) are rare inherited conditions presenting a relentlessly progressive course. Some NMD are associated with intellectual impairment and many are complicated by musculoskeletal, cardiac, or respiratory problems. Rehabilitation care of NMD is thus best provided by a team of medical specialists and health professionals working closely together in an interdisciplinary fashion. Rehabilitation for patients with NMD should include physical evaluation but also assessment of their ability to manage their daily activities or work and their need for assistive devices...
2013: Handbook of Clinical Neurology
R Caremel, O Hamel, E Gerardin, L Lenormand, F Parker, M Lefort, P Grise, B Perrouin-Verbe
The incidence of post-traumatic syringomyelia (PTS) is estimated according to recent studies at 25 to 30% of patients with traumatic spinal cord injuries in magnetic resonance imaging (MRI), which remains the gold standard exam for syringomyelia diagnosis and monitoring. Syringomyelia is translated by an increased cord signal (similar to CSF) with low-density T1-weighted image and high-density T2-weighted image, which extends beyond site of initial lesion at least to two vertebral segments. Two conditions are required for development of PTS: traumatic spinal cord injury and blocked the flow of CSF epidural...
January 2013: Progrès en Urologie
J-M Cuisset, B Estournet
Typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to SMN1 gene defects. Since no etiological treatment is currently available, its management is necessarily symptomatic and involves multidisciplinary care. The national plan on rare diseases for 2005-2008 developed by the French Ministry of Health resulted in the creation of 12 reference centres for neuromuscular diseases, mainly to improve their diagnosis and management. During the first one-day clinical research meeting on neuromuscular disorders, organized by the French Association to fight myopathies (AFM) in May 2007, clinicians from the 12 national reference centers led workshops for each of the main neuromuscular diseases...
December 2012: Revue Neurologique
James N Sleigh, Stuart J Grice, Kay E Davies, Kevin Talbot
No abstract text is available yet for this article.
January 2013: Neuromuscular Disorders: NMD
Shahnaz Ibrahim, Tariq Moatter, Ali Faisal Saleem
BACKGROUND: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented to Aga Khan University, Karachi. MATERIALS AND METHODS: This study was a retrospective review of the medical charts of children (neonate: 15 years) with discharge diagnosis of SMA during last 10 years...
May 2012: Neurology India
J L Muñoz Blanco
Neurologists should anticipate and recognize the onset of respiratory failure in patients with neuromuscular diseases. Symptoms vary according to the speed of onset of respiratory muscle weakness. Catastrophic situations usually occur in three clinical scenarios: 1) incorrect management of acute respiratory failure of neuromuscular origin, autonomic dysfunction or during general anaesthesia of patients with neuromuscular diseases ; 2) incorrect prognosis and treatment due to the lack of a correct diagnosis...
October 2010: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Xing Ji, Xiao-qing Liu, Jia-wei Shen, Xi-hua Li, Jiong Tao
OBJECTIVE: Spinal muscular atrophy (SMA), characterized by degeneration of the anterior horn cells in the spinal cord and symmetric proximal muscle weakness, is the most common autosomal recessive neuromuscular disease in infants and children. In Caucasian population, about 95% of clinically typical patients lack both copies of the telomeric survival motor neuron gene (SMN 1). However, the detection rate of the homozygous absence in Chinese patients is still controversial, which may lead to reduced confidence in the SMA genetic testing in clinical practice...
June 2010: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
M Chatwin, A Bush, A K Simonds
BACKGROUND: There are widely discrepant views on the respiratory management of infants with spinal muscular atrophy (SMA) type I. Typically, management is palliative. DESIGN: A descriptive study of interventions and investigations is reported that were offered to a cohort of 13 children with SMA type I referred to our centre. Interventions and investigations included sleep studies, provision of non-invasive positive pressure ventilation (NIPPV) for ventilatory support/dependency and for physiotherapy and the use of mechanical insufflation/exsufflation (MI-E)...
May 2011: Archives of Disease in Childhood
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