ABSTRACT
Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular diseases. Its evolution with well-defined stages related to motor and functional alterations, allows easily establishing relationships with respiratory function through a simple laboratory assessment including vital capacity (VC) measurements as well as peak cough flows. Without any treatment with respiratory rehabilitation, the main cause of morbidity and mortality is ventilatory failure, secondary to respiratory pump muscles weakness and inefficient cough. The VC plateau is reached during the non-ambulatory stages, generally after 13 years old. Respiratory rehabilitation protocols, including air stacking techniques, manual and mechanical assisted coughing and non-invasive ventilatory support, can effectively addressed the VC decline as well as the decrease in peak cough flows, despite advancing to stages with practically non-existent lung capacity. Non-invasive ventilatory support may be applied after 19 years old, initially at night and then extending it during the day. In this way, survival is prolonged, with good quality of life, avoiding ventilatory failure, endotracheal intubation and tracheostomy. This article proposes staggered interventions for respiratory rehabilitation based on the functional stages expected in the patient with DMD who has lost ambulation.
La distrofia muscular de Duchenne (DMD) es una de las enfermedades neuromusculares más frecuentes. Su curso evolutivo con etapas de declinación en la funcionalidad motora bien definidas, permite fácilmente establecer relaciones con la función respiratoria a través de un laboratorio de evaluación sencilla, básicamente de la capacidad vital (CV) y la capacidad tusígena. Sin intervenciones en rehabilitación respiratoria, la principal causa de morbimortalidad es la insuficiencia ventilatoria secundaria a debilidad de músculos de la bomba respiratoria e ineficiencia de la tos. En las etapas no ambulantes, se alcanza la meseta de la CV, generalmente después de los 13 años, su declinación junto con la disminución de la capacidad tusígena puede ser enfrentada efectivamente con la utilización de protocolos de rehabilitación respiratoria. Estos deben considerar la restitución de la CV con técnicas de insuflación activa o apilamiento de aire, tos asistida manual y mecánica, más soporte ventilatorio no invasivo, inicialmente nocturno después de los 19 años y luego diurno, pese a avanzar a etapas con capacidad pulmonar prácticamente inexistente. De esta manera, se prolonga la sobrevida, con buena calidad de vida, evitando el fallo ventilatorio, eventos de intubación endotraqueal y traqueostomía. Este artículo, hace propuestas escalonadas de intervención en rehabilitación respiratoria basadas en las etapas funcionales esperables en el paciente con DMD que ha perdido la capacidad de marcha.
Subject(s)
Humans , Respiratory Therapy/methods , Muscular Dystrophy, Duchenne/rehabilitation , Scoliosis/rehabilitation , Vital Capacity , Noninvasive VentilationABSTRACT
El propósito de este artículo es describir el uso de técnicas de soporte respiratorio muscular no invasivo con el fin de prevenir la insuficiencia respiratoria y el fallo ventilatorio, permitiendo la extubación y decanulación de pacientes considerados "imposibles de destetar''. La aplicación de presión en la vía aérea de forma no invasiva durante la inspiración puede proporcionar un soporte ventilatorio continuo en pacientes con poca o inexistente capacidad vital. Así mismo, podrá alcanzarse un pico flujo espiratorio efectivo en pacientes con una disfunción severa de los músculos espiratorios. En abril de 2010 un consenso clínico de 19 centros en 18 países describió 1623 pacientes neuromusculares con atrofia muscular espinal tipo 1, distrofia muscular de Duchenne (DMD) y esclerosis lateral amiotrófica que sobrevivieron utilizando soporte ventilatorio continuo sin necesidad de traqueotomía. De esta serie de pacientes, 76 (47%) precisaron ventilación no invasiva continua en un periodo de seguimiento de 15 años. De estos 76.22 (30.1%) de los enfermos fueron extubados y 35 (4.6%) decanulados en cuatro centros especializados. En estos centros se extuban rutinariamente pacientes con distrofia muscular de Duchenne considerados "imposibles de destetar", de forma que ninguno de sus más de 250 enfermos ha requerido traqueotomía. Esta aproximación en el tratamiento se está abriendo camino en varios centros de España, México y América45.
The purpose of this article is to describe the use of noninvasive inspiratory and expiratory muscle aids to prevent ventilatory insufficiency and failure, and to permit the extubation and tracheostomy tube decannulation in "unweanable" patients. Noninvasive airway pressure aids can provide a continuous support to respiratory ventilation for patients with little or no vital capacity and can provide effective cough flows in patients with severely dysfunctional expiratory muscles. In April 2010, a consensus of clinicians from 19 centers in 18 countries reported the experience of noninvasive ventilation in 1623 patients with spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis (ALS), who survived without tracheotomy. The survival was for more than 15 years in 76 patients. Among these 76 patients, 22 (30.1%) were extubated and 35 (4.6%) were decannulated in four specialized centers. In these centers, unweanable DMD patients are routinely extubated; none of over 250 such patients has undergone tracheotomy. This approach is now being introduced into different centers in Spain, Mexico and the United States.
Subject(s)
Respiration, Artificial , Tracheotomy , Glossopharyngeal Nerve DiseasesABSTRACT
Lung volume recruitment involves deep inflation techniques to achieve maximum insufflation capacity in patients with respiratory muscle weakness, in order to increase peak cough flow, thus helping to maintain airway patency and improve ventilation. One of these techniques is air stacking, in which a manual resuscitator is used in order to inflate the lungs. Although intrathoracic pressures can rise considerably, there have been no reports of respiratory complications due to air stacking. However, reaching maximum insufflation capacity is not recommended in patients with known structural abnormalities of the lungs or chronic obstructive airway disease. We report the case of a 72-year-old woman who had poliomyelitis as a child, developed torsion scoliosis and post-polio syndrome, and had periodic but infrequent asthma attacks. After performing air stacking for 3 years, the patient suddenly developed a pneumothorax, indicating that this technique should be used with caution or not at all in patients with a known pulmonary pathology.
O recrutamento do volume pulmonar envolve técnicas de insuflações pulmonares profundas para se atingir a capacidade de insuflação máxima em pacientes com fraqueza da musculatura respiratória, a fim de aumentar o pico de fluxo da tosse e assim auxiliar a manutenção da patência de vias aéreas e melhorar a ventilação. Uma dessas técnicas é o empilhamento de ar, na qual se utiliza um ressuscitador manual para insuflar os pulmões. Embora as pressões intratorácicas possam aumentar consideravelmente, não há relatos de complicações por empilhamento de ar. Entretanto, atingir a capacidade de insuflação máxima não é recomendado em pacientes com anormalidades na estrutura pulmonar ou doença obstrutiva crônica das vias aéreas. Relatamos o caso de uma paciente de 72 anos que teve poliomielite quando criança, desenvolveu escoliose de torção e síndrome pós-pólio e tinha exacerbações de asma periódicas, mas infrequentes. Após realizar empilhamento de ar por 3 anos, a paciente subitamente desenvolveu pneumotórax, mostrando que essa técnica deve ser utilizada com cuidado ou não ser utilizada por pacientes com patologia pulmonar conhecida.