Actualización en: El trastorno neuromuscular, un reto diagnóstico / Update on: Neuromuscular disorder, a diagnostic challenge

Los trastornos neuromusculares (TNM) son una causa frecuente de morbilidad pediátrica. Muchos de estos trastornos, generan a largo plazo una discapacidad progresiva en el niño/a, por lo cual, el diagnóstico oportuno es elemental. Como es común con otras afecciones médicas, el punto de partida del proceso diagnóstico es una detallada historia clínica y un examen físico completo. Este abordaje, esencialmente clínico, permite establecer un diagnóstico sindromático inicial y posteriormente orientarnos hacia cuadros específicos que nos permitan dirigir la solicitud de los estudios complementarios. El laboratorio neuromuscular comprende una serie de exámenes que complementan la identificación de estos cuadros y nos permiten el planteamiento de un diagnóstico diferencial entre fenotipos muy similares. Los objetivos de la investigación diagnóstica son los de ofrecer un consejo genético, definir un pronóstico futuro y establecer un plan de tratamiento actualizado, orientado a mantener la funcionalidad, prevenir las complicaciones y mejorar la calidad de vida de cada paciente. Este artículo tiene como finalidad, brindar herramientas de abordaje diagnóstico pediátrico, del niño/a que se presenta a la consulta médica, con síntomas sugestivos de un trastorno neuromuscular

Neuromuscular disorders (NMS) are a common cause of pediatric morbidity. Many of these disorders, in the long term, create a progressive disability in the child, so that timely diagnosis is essential. As is common with other medical conditions, the starting point of the diagnostic process is a complete and detailed medical history and physical examination. This approach, mainly clinical, makes it possible to establish an initial syndromic diagnosis and then to orient ourselves to specific charts and direct the request for complementary studies. The neuromuscular laboratory includes a series of tests that complement the identification of these charts and allow us to approach a differential diagnosis between common phenotypes. The objectives of the diagnostic investigation are to offer genetic counseling, to define a future prognosis and to establish an updated treatment plan, aimed at maintaining the functionality, preventing complications and improving the quality of life of each patient. This article aims to provide tools for a pediatric diagnostic approach of the child who presents to the medical consultation, with symptoms suggestive of a neuromuscular disorder

Inherited neuromuscular disorders presented initially or mainly with respiratory manifestation / 中华实用儿科临床杂志

Many different types of neuromuscular disorders can affect respiratory function by either a muscle itself or the nerve(s) supplying that muscle.Patients with certain inherited neuromuscular diseases,such as spinal muscular atrophy,spinal muscular atrophy with respiratory distress type 1,SEPNl-related myopathies,can present with recurrent respiratory system infections,acute or chronic respiratory failure as well as sleep disordered breathing.The respiratory complications could show up even before the manifestation of neuromuscular diseases.The chest X-ray,blood gas analysis,spirometry,sleep studies etc can be used to assess the affected respiratory muscle function,and also can be used to prove the suspicion of the neuromuscular disorders.

Ultrasonography in Neuromuscular Disorder

High-resolution (HR) ultrasound, which has been progressing continuously in technology, has improved in aspect of spatial and contrast resolution. The HR ultrasonography is a noninvasive, readily applicable imaging technique, which could get static and dynamic image in real-time for various neuromuscular disorders, especially in entrapment neuropathy. It is also a reliable tool to detect dynamic muscle movements such as fasciculation as well as muscle atrophy in chronic myopathies or neuropathies. Although reliability of the HR ultrasonography has not been investigated in large series of patients, different neuromuscular disorders tend to show specific changes on the ultrasound, which can be helpful in differential diagnosis. The HR ultrasonography is an ideal tool for the clinical and research investigation of neuromuscular system complementary to electrodiagnostic studies. This review briefly describes applicability for various neuromuscular disorders with previous study results and the technical aspects of ultrasound and its physical principles.

Empleo de la toxina botulínica tipo a en el tratamiento del espasmo hemifacial

Los trastornos neuromusculares son afecciones que alteran la vida de cualquier persona, movimientos musculares incontrolados que causan molestias e interfieren en la rutina diaria. Esta revisión bibliográfica se ha llevado a cabo con la finalidad de relacionar uno de los agentes químicos más populares en la actualidad para uso estético, la Toxina Botulínica (Botox), con el tratamiento de una entidad que necesita ser tratada más allá de las banalidades de la belleza, como lo es el Espasmo Hemifacial (EHF). Son las mujeres de la 5 década de la vida quienes tienen el mayor riesgo de sufrir esta enfermedad que afecta a los músculos inervados por el nervio facial, con una incidencia de 7.4 a 14.5 casos por cada 100.000 habitantes. Estos pueden ser tratados con varias alternativas terapéuticas, pero es la Toxina Botulínica una de las más usadas, produciendo relajación en el punto exacto del músculo donde se inyecta, con el beneficio de no interferir en la trasmisión de los impulsos nerviosos, sin embargo uno de sus efectos colaterales más destacados es el botulismo, si se administra a altas dosis. Las opciones para tratar una patología pueden ser innumerables, lo importante es analizar la severidad del caso, el factor riesgo-beneficio, las condiciones sistémicas del paciente y la efectividad, duración y costo del tratamiento.

The neuromuscular disorders are a group of conditions that affect the nerves that control the voluntary muscles and can interfere with the activities of daily living of any given person. One of these disorders is a condition known as Hemifacial Spam (HFS) which is characterized by frequent involuntary contractions of the ipsilateral muscles innervated by the facial nerve (seventh cranial nerve). This condition more frequently affects women in the fifth decade of life and its incidence among the general population is 7.4 to 14.5 cases per 100.000 person/years. One of the most common therapeutic approaches for this condition is the use of Botulinum toxin (commonly known as Botox). This toxin works by causing the relaxation of the injected muscle reducing the abnormal contractions, though if administered in higher doses than recommended, this therapy could cause a form of botulism.: This toxin produces the paralysis of the myoneural junction causing a neuromuscular blocking effect and reducing abnormal muscle contraction. The purpose of this review is to evaluate the effects of the Botulinum toxin in the treatment of FHS, its effectiveness, side effects, duration and the risk benefits of this therapy.

Comparison of Motor Unit Number Estimates and Conventional Electromyogram in the Detection of Neuromuscular Diseases / 中国康复理论与实践

@#: ObjectiveTo compare the clinical significance of motor unit number estimates (MUNE) and conventional electromyogram (EMG) in the evaluation of neuromuscular disorders. MethodsUnder the model of MUNE or quantity of motor unit potential (QMUP), 53 patients with various neurogenic disorders were tested with EMG at extensor digitorum brevis, thenar, or hypothenar eminence. ResultsFor 8 patients with amyotrophic lateralizing sclerosis, large and long-duration polyphasic potentials were detected in needle electrode EMG tests, and the motor unit numbers reduced. For 45 patients with peripheral neuropathies, few distinctive features could not be detected by needle electrode EMG, but motor unit numbers reduced in 2 patients; spontaneous activities were the only abnormality in the other 2 patients, and there were no obviously abnormal changes in the configuration and size of motor unit potentials and in motor unit numbers; EMG tests revealed neurogenic features and motor unit numbers significantly reduced in the remaining 41 patients. ConclusionConventional EMG and MUNE can work for the diagnosis of neuromuscular disorders, and do better in combination.