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      Enfermedad de Pompe como diagnóstico diferencial de enfermedad de motoneurona: reporte de casos y revisión de la literatura Translated title: Pompe disease as a differential diagnosis of motor neuron disease: report of a case and review of the literature

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          Abstract

          A través del presente estudio se pretende demostrar la importancia de la evaluación de la enfermedad de Pompe como diagnóstico diferencial de la enfermedad de motoneurona. En el siguiente trabajo presentamos dos casos clínicos en los que inicialmente se consideró enfermedad de motoneurona, y en donde finalmente se documentó un déficit de alfa glucosidasa como causal de la sintomatología.

          Translated abstract

          Through this study we aim to demonstrate the importance of the evaluation of pompe disease as a differential diagnosis of motor neuron disease. Here we present two cases in which the initial approach was of a motor neuron disease, but with a more comprehensive assessment it was documented an alpha glucosidase deficiency.

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          Most cited references 18

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          EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

          The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak. To provide evidence-based or expert recommendations for the diagnosis and management of ALS based on a literature search and the consensus of an expert panel. All available medical reference systems were searched, and original papers, meta-analyses, review papers, book chapters and guidelines recommendations were reviewed. The final literature search was performed in February 2011. Recommendations were reached by consensus. Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with a high priority. The patient should be informed of the diagnosis by a consultant with a good knowledge of the patient and the disease. Following diagnosis, the patient and relatives/carers should receive regular support from a multidisciplinary care team. Medication with riluzole should be initiated as early as possible. Control of symptoms such as sialorrhoea, thick mucus, emotional lability, cramps, spasticity and pain should be attempted. Percutaneous endoscopic gastrostomy feeding improves nutrition and quality of life, and gastrostomy tubes should be placed before respiratory insufficiency develops. Non-invasive positive-pressure ventilation also improves survival and quality of life. Maintaining the patient's ability to communicate is essential. During the entire course of the disease, every effort should be made to maintain patient autonomy. Advance directives for palliative end-of-life care should be discussed early with the patient and carers, respecting the patient's social and cultural background. © 2011 The Author(s). European Journal of Neurology © 2011 EFNS.
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            Risk factors for amyotrophic lateral sclerosis

            Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease. It is typically fatal within 2–5 years of symptom onset. The incidence of ALS is largely uniform across most parts of the world, but an increasing ALS incidence during the last decades has been suggested. Although recent genetic studies have substantially improved our understanding of the causes of ALS, especially familial ALS, an important role of non-genetic factors in ALS is recognized and needs further study. In this review, we briefly discuss several major genetic contributors to ALS identified to date, followed by a more focused discussion on the most commonly examined non-genetic risk factors for ALS. We first review factors related to lifestyle choices, including smoking, intake of antioxidants, physical fitness, body mass index, and physical exercise, followed by factors related to occupational and environmental exposures, including electromagnetic fields, metals, pesticides, β-methylamino-L-alanine, and viral infection. Potential links between ALS and other medical conditions, including head trauma, metabolic diseases, cancer, and inflammatory diseases, are also discussed. Finally, we outline several future directions aiming to more efficiently examine the role of non-genetic risk factors in ALS.
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              Spinal Muscular Atrophy.

              Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene. There is an inverse correlation between SMN2 gene copy number and clinical severity. Clinical management focuses on multidisciplinary care. Preclinical models of SMA have led to an explosion of SMA clinical trials that hold great promise of effective therapy in the future.
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                Author and article information

                Affiliations
                Bogotá orgnameUniversidad del Rosario Colombia
                Bogotá orgnameClínica VIP Colombia
                Bogotá orgnameFundación Cardioinfantil Colombia
                Bogotá orgnameUniversidad del Rosario Colombia
                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                anco
                Acta Neurológica Colombiana
                Acta Neurol Colomb.
                Asociación Colombiana de Neurología (Bogotá, Distrito Capital, Colombia )
                0120-8748
                September 2016
                : 32
                : 3
                : 212-215
                S0120-87482016000300006

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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                Figures: 0, Tables: 0, Equations: 0, References: 18, Pages: 4
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                Product Information: SciELO Colombia

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