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By clicking register, I agree to your terms. Villa Asensi bM. Luna Paredes cartrogriiposis Zarza dF. Larramona Carrera e y J. Desde que nacen o son diagnosticados requieren un seguimiento por parte del neumopediatra para diagnosticar y tratar las complicaciones respiratorias, que son su principal causa de fallecimiento, dentro de un contexto multidisciplinar.

Todos los derechos reservados. Respiratory clinical assessment and follow-up Abstract Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require Autor para correspondencia. The ventilatory support and the cough assistance have improved the quality of life and longterm survival for many of these patients.

In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper. Estas complicaciones pueden ser: La incidencia de la enfermedad de Duchenne se estima entre 1 de cada 3.

Grupo de Fisiiopatologia de Enfermedades Neuromusculares. Al igual que en la DMD no suele ser necesaria excepto en los casos dudosos.

Fallo respiratorio precoz con expectativa de vida inferior a los 6 meses sin soporte ventilatorio. Pueden presentar temblor de manos, contracturas y anquilosis mandibular.

Los pacientes con AME tienen un cociente intelectual normal y en algunos casos superior a la media.

Idealmente el manejo del paciente con AME debe ser multidisciplinar. Una vez que la reserva respiratoria se ve comprometida, cualquier aumento de la sobrecarga puede conducir a fatiga del diafragma y fracaso respiratorio.

Las principales complicaciones pulmonares de las ENM se expresan en la tabla 5. En la infancia la envergadura es cm menor que la talla. La escoliosis va a acrecentar de forma importante la enfermedad restrictiva. Se debe permitir al paciente descansar entre 30 y 60 s entre los esfuerzos. Es imprescindible observar que no existan escapes de aire durante la maniobra. Pueden presentar todo el espectro de TRS: Centro respiratorio En general, los sujetos con ENM tienen una respuesta ventilatoria normal Puede estar presente a pesar de normocapnia diurna.

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Es habitual cuando se afecta el diafragma. Generalmente, los TRS se correlacionan con la severidad de la debilidad muscular.

En pacientes con AME tipo ii los porcentajes que se hallaron de pacientes afectados por estas alteraciones son similares Conclusiones Para mejorar la supervivencia y la calidad de vida de los pacientes con ENM debemos proponernos los siguientes objetivos: British Thoracic Society guideline for respiratory management of children with neuromuscular weakness.

Grupo de Estudio de Enfermedades. Diseases of the dystrophinglycoprotein complex. Ventilatory parameters and maximal respiratory pressure changes with age in Duchenne muscular dystrophy patients. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Sleep-related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population. J Paediatr Child Health. Pulmonary manifestations of neuromuscular disease with special reference to duchenne muscular dystrophy and spinal muscular atrophy.

Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Spinal muscular atrophy diagnostics. Zerres K, Davies KE. Recent progress and revised diagnostic criteria AprilSoestduinen, The Netherlands. Respiratory management of the infant with type 1 spinal muscular atrophy.

Spinal muscular atrophy type 1: A non-invasive respiratory management approach. Pulmonary complications of neuromuscular disease. The pathophysiology of respiratory impairment in pediatric neuromuscular diseases. Hutchinson D, Whyte K. Neuromuscular disease and respiratory failure.

Respiratory issues in the management of children with neuromuscular disease. Manifestaciones respiratorias en las enfermedades neuromusculares.

Inspiratory muscle activity as a trigger causing the airways to open in obstructive sleep apnea. Am Rev Respir Dis.

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Neuromuscular disease causing acute respiratory failure. Surface force in the lung, atelectasis, and transpulmonary pressure.

De Troyer A, Deisser P. The effects of intermittent positive pressure breathing on patients with respiratory muscle weakness. Bach JR, Bianchi C. Prevention of pectus excavatum for children with spinal muscular atrophy type 1. Am J Phys Med Rehabil. Fe statement on standard of care for congenital myopathies. Respiratory care of the patient with Duchenne muscular distrophy. Pulmonary function testing in neuromuscular disorders. Predictors of severe chest infections in pediatric neuromuscular disorders.

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Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Respiratory muscle strength and control of ventilation in patients with neuromuscular disease. Ventilatory support in congenital neuromuscular disorders. Rules for scoring respiratory events in sleep: J Clin Sleep Med.

Cardiac involvement in neuromuscular disorders. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehab. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol.

Cochrane Database Syst Rev. Cutoff value of lipidladen alveolar macrophages for diagnosing aspiration in infants and children. Am J Med Sci. Respiratory involvement in neuromuscular disease.

Respiratory motor training and neuromuscular plasticity in patients with chronic obstructive pulmonary disease: Noninvasive respiratory management for patients with spinal cord injury and neuromuscular disease. Neuromuscular disease and respiratory physiology in children: Residual neuromuscular blockade and postoperative critical respiratory events: Sedation and neuromuscular blocking agents in acute respiratory distress syndrome.

Fisiopatoloogia value of respiratory muscle testing in children with neuromuscular disease. Exercise in neuromuscular disease. Assessment of neuromuscular conditions using ultrasound. MRI quantifies neuromuscular disease progression.

Teratogenicidad embrio-fetal inducida por medicamentos.

Neuromuscular issues in systemic disease. Optimal method for assessment of respiratory muscle strength in neuromuscular disorders using sniff nasal inspiratory pressure SNIP. Clinical strategies for complete denture rehabilitation in a patient with Parkinson disease and reduced neuromuscular control.

Structured assessment and followup for patients with hereditary kidney tumour syndromes. Vaccination recommendations for patients with neuromuscular disease. Technical and clinical view on ambulatory assessment in Parkinson’s disease. Homelessness and respiratory disease. Respiratory benefits of deep neuromuscular block during laparoscopic surgery in a patient with end-stage lung disease.