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spinal muscular atrophy AND medical management

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
Richard W Orrell
INTRODUCTION: There is no curative treatment for the common motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy. Nevertheless, there is an increasing volume of published studies. This review assesses the current evidence for treatment of these conditions. SOURCES OF DATA: Primarily, the systematic reviews of the Cochrane Collaboration, with additional reference to other systematic reviews and online sites. AREAS OF AGREEMENT: Riluzole remains the only medication with demonstrated efficacy and regulatory approval for the treatment of ALS...
2010: British Medical Bulletin
Robert J Graham, Umeshkumar Athiraman, Anjolie E Laubach, Navil F Sethna
OBJECTIVE: To describe the perioperative medical care, anesthetic considerations, and the risk of postanesthetic respiratory failure in patients with pediatric spinal muscular atrophy (SMA). METHODS: There is a retrospective chart review carried out at an urban, tertiary care pediatric hospital. All patients with ICD-9 codes corresponding to SMA diagnoses were identified, and records screened for anesthetic and perioperative medical management. Medical records were reviewed for demographic, clinical, and outcome data...
November 2009: Paediatric Anaesthesia
F Canavese, M D Sussman
Joint contractures, subluxation and dislocation are common problem in children with neuromuscular disorders. Medical, surgical and rehabilitative approaches can be used to maintain patient function and comfort. Contracture release, hip dysplasia correction and procedures to address or prevent hip subluxation or dislocation, are not always necessary since patients can be asymptomatic and surgical treatment will not always be successful in maintaining a reduced hip. In fact, controversy surrounds the management of hip disorder in children with Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita...
January 2009: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
Adam D Niesen, Juraj Sprung, Y S Prakash, James C Watson, Toby N Weingarten
PURPOSE: Kennedy's disease (KD) is a rare, X-linked recessive, neurodegenerative disorder of lower motor neurons characterized by progressive proximal limb and bulbar muscular atrophy with spontaneous laryngospasm, which may present an anesthetic risk. We undertook a computerized search of the Mayo Clinic medical records database between January 1996 and May 2008 for patients with KD undergoing general anesthesia. Medical records were reviewed for anesthetic techniques and perioperative complications...
February 2009: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
Jay J Han, Craig M McDonald
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of lower motor neurons, with resulting progressive muscle weakness. The clinical phenotype and disease severity can be varied and occupy a wide spectrum. Although many advances have been made regarding our understanding of SMA, no cure is yet available. The care of patients who have SMA can often be complex, with many medical issues to consider. When possible, a multidisciplinary team approach is effective...
August 2008: Physical Medicine and Rehabilitation Clinics of North America
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