RESUMEN
Diagnosis of later-onset spinal muscular atrophy (SMA) can be challenging. This study aimed to evaluate the diagnostic properties of the detection of muscle fasciculations for SMA diagnosis in adolescents and adults with proximal muscle weakness. A cross-sectional diagnostic accuracy study was performed, in which 10 subjects with SMA (5 with type II and 5 with type III) and 9 subjects with genetic muscle diseases were evaluated by physical examination, muscle ultrasound (MUS) and electromyography (EMG). Inter-rater reliability of MUS was higher than physical examination and in a sensitivity analysis of MUS, all SMA subjects and a single patient with genetic muscle disease presented fasciculations in at least 2 different muscle groups, resulting in a sensitivity of 1 (95% CI: 0.69 to 1) and a specificity of 0.89 (95% CI: 0.52 to 1) for SMA diagnosis. Forty-two percent of evaluated subjects did not agree to perform EMG, limiting this method results. Muscle ultrasound presented the best diagnostic accuracy and physical examination combined with MUS seemed to be a good strategy for screening adolescents and adults with proximal muscle weakness for SMA. These results might improve diagnostic guidelines for later-onset SMA, leading to earlier diagnosis, treatment and specific care.
Asunto(s)
Fasciculación , Atrofia Muscular Espinal , Adolescente , Adulto , Estudios Transversales , Fasciculación/diagnóstico , Humanos , Debilidad Muscular , Músculos , Atrofia Muscular , Atrofia Muscular Espinal/diagnóstico , Reproducibilidad de los ResultadosRESUMEN
Fasciculations and cramps originate in the motor unit, a functional unit that includes the lower motor neuron and their innervated muscle fibres. Both are common complaints in outpatient practice. These symptoms can be secondary to neurological or medical pathology, presenting a broad differential diagnosis and a complex approach. Recent neurophysiological studies have increased the knowledge of their origin mainly in amyotrophic lateral sclerosis. The symptomatic management of fasciculations and cramps depends on their etiology and includes pharmacological and non-pharmacological treatments. This article aims to present an updated review of the most relevant aspects of physiopathology, clinical approach, and differential diagnosis of both phenomena.
Asunto(s)
Humanos , Fasciculación/diagnóstico , Fasciculación/etiología , Fasciculación/terapia , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/terapia , Electromiografía/efectos adversos , Neuronas Motoras/fisiología , Calambre Muscular/diagnóstico , Calambre Muscular/etiología , Calambre Muscular/terapiaRESUMEN
We present a historical review, highlighting the role of Professor Derek Denny-Brown and doctor Joseph Buford Pennybacker in the development of current electromyography (EMG), of the 80 years since the publication of his original report in 1938 on fasciculation and fibrillation potentials and the subsequent studies describing most of the electrical changes necessary to perform and interpret the EMG.
Asunto(s)
Esclerosis Amiotrófica Lateral , Electromiografía/historia , Médicos , Esclerosis Amiotrófica Lateral/diagnóstico , Arritmias Cardíacas , Fasciculación/diagnóstico , Historia del Siglo XX , Historia del Siglo XXI , HumanosRESUMEN
ABSTRACT We present a historical review, highlighting the role of Professor Derek Denny-Brown and doctor Joseph Buford Pennybacker in the development of current electromyography (EMG), of the 80 years since the publication of his original report in 1938 on fasciculation and fibrillation potentials and the subsequent studies describing most of the electrical changes necessary to perform and interpret the EMG.
RESUMO Os autores apresentam uma revisão histórica destacando o papel do Professor Derek Denny-Brown e do doutor Joseph Buford Pennybacker no desenvolvimento da eletromiografia atual, ao longo dos oitenta anos de seu artigo original em 1938, sobre potenciais de fasciculação e fibrilação, e os estudos subsequentes que descreveram a maioria das mudanças elétricas necessárias para realizar e interpretar EMG.
Asunto(s)
Humanos , Historia del Siglo XX , Historia del Siglo XXI , Médicos , Electromiografía/historia , Esclerosis Amiotrófica Lateral/diagnóstico , Arritmias Cardíacas , Fasciculación/diagnósticoRESUMEN
Fasciculations and cramps originate in the motor unit, a functional unit that includes the lower motor neuron and their innervated muscle fibres. Both are common complaints in outpatient practice. These symptoms can be secondary to neurological or medical pathology, presenting a broad differential diagnosis and a complex approach. Recent neurophysiological studies have increased the knowledge of their origin mainly in amyotrophic lateral sclerosis. The symptomatic management of fasciculations and cramps depends on their etiology and includes pharmacological and non-pharmacological treatments. This article aims to present an updated review of the most relevant aspects of physiopathology, clinical approach, and differential diagnosis of both phenomena.
Asunto(s)
Esclerosis Amiotrófica Lateral , Fasciculación , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/terapia , Electromiografía/efectos adversos , Fasciculación/diagnóstico , Fasciculación/etiología , Fasciculación/terapia , Humanos , Neuronas Motoras/fisiología , Calambre Muscular/diagnóstico , Calambre Muscular/etiología , Calambre Muscular/terapiaRESUMEN
We report the case of a 54-year-old right-handed man who presented with a 2-year history of progressive upper-limb weakness with mild dysarthria and prominent involuntary perioral abnormal movements that were characterized as fasciculations. Electromyography disclosed motor neuron disease. The diagnosis of Kennedy's disease was established by polymerase chain reaction. Perioral abnormal movements and fasciculations may represent important clinical clues to the diagnosis of Kennedy's disease, particularly when associated with proximal muscle atrophy and gynecomastia. In suspected cases, genetic testing for elevated CAG repeats in the androgen receptor Xq12 gene is warranted.
Asunto(s)
Atrofia Bulboespinal Ligada al X/genética , Fasciculación/genética , Atrofia Muscular/genética , Atrofia Bulboespinal Ligada al X/complicaciones , Atrofia Bulboespinal Ligada al X/diagnóstico , Electromiografía/métodos , Fasciculación/diagnóstico , Fasciculación/etiología , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa/métodosRESUMEN
OBJECTIVES: To estimate the frequency of and to characterize muscle excitability abnormalities in Machado-Joseph disease (MJD). DESIGN: Machado-Joseph disease is a common autosomal dominant cerebellar ataxia caused by an unstable CAG trinucleotide repeat expansion. Muscle cramps and fasciculations are frequent and sometimes disabling manifestations. However, their frequency and pathophysiological mechanisms remain largely unknown. Symptomatic patients with MJD (hereinafter MJD patients) with molecular confirmation were assessed prospectively. A standard questionnaire addressing clinical features of muscle cramps and fasciculations was used. The Cramps Disability Scale was used to quantify cramps-related disability. Patients underwent neurophysiological testing with routine techniques. F waves of the right median nerves were obtained, and persistence indexes were calculated. Four muscles (deltoid, first dorsal interossei, tibialis anterior, and vastus lateralis) were examined by needle electromyography. A semiquantitative scale (from 0 [no activity] to 4 [continuous activity]) was used to determine the frequency of rest fasciculations in each muscle. RESULTS: Fifty MJD patients (29 men) were included in the study. Their mean age at examination was 46.3 years, their mean age at onset of the disease was 35 years, and the mean duration of disease was 11.2 years. Abnormal CAG(n) varied from 59 to 75 repeats. Forty-one patients presented with muscle cramps; in 10, this was their first symptom. The frequency of cramps varied between 1 and 90 episodes a week. For 15 patients, cramps were the chief complaint, frequently disturbing sleep or work (Cramps Disability Scale score, 2 or 3). Lower limbs were affected in 37 individuals, but unusual regions, such as the face and abdominal muscles, were also involved. Fasciculations were found in 25 individuals; in 8 patients, they included facial muscles. However, fasciculations were not a significant complaint for any of these patients. The clinical and neurophysiological profile of MJD patients with and without cramps was not significantly different. However, MJD patients with fasciculations had more severe damage to their peripheral nerves. CONCLUSIONS: Muscle excitability abnormalities were found in 41 MJD patients (82%), and they were the presenting complaint in 10 (20%). They are related to altered excitability of peripheral motor axons, but mechanisms underlying cramps and fasciculations are possibly distinct in MJD patients.
Asunto(s)
Electromiografía , Enfermedad de Machado-Joseph/fisiopatología , Músculo Esquelético/inervación , Adolescente , Adulto , Anciano , Axones/fisiología , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Evaluación de la Discapacidad , Fasciculación/diagnóstico , Fasciculación/genética , Fasciculación/fisiopatología , Femenino , Genes Dominantes , Humanos , Enfermedad de Machado-Joseph/diagnóstico , Enfermedad de Machado-Joseph/genética , Masculino , Nervio Mediano/fisiopatología , Persona de Mediana Edad , Neuronas Motoras/fisiología , Calambre Muscular/diagnóstico , Calambre Muscular/genética , Calambre Muscular/fisiopatología , Examen Neurológico , Fenotipo , Estudios Prospectivos , Nervio Tibial/fisiopatología , Repeticiones de TrinucleótidosRESUMEN
Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.
Asunto(s)
Aminas/uso terapéutico , Anticonvulsivantes/uso terapéutico , Ácidos Ciclohexanocarboxílicos/uso terapéutico , Fasciculación/tratamiento farmacológico , Ácido gamma-Aminobutírico/uso terapéutico , Fasciculación/diagnóstico , Femenino , Gabapentina , Humanos , Persona de Mediana EdadRESUMEN
Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.
Fasciculações são sintomas presentes em um amplo espectro de condições, desde manifestações normais até doenças do neurônio motor. Elas representam também o principal aspecto da síndrome de fasciculações benignas. Relatamos um caso desta síndrome: uma paciente de 48 anos com queixas de fasciculações por três décadas que, mesmo após a compensação de um quadro de hipertireoidismo, permaneceu com os sintomas. A introdução de gabapentina levou a controle das fasciculações. Os dados disponíveis na literatura sobre as abordagens terapêuticas para fasciculações são revisados, assim como os raros relatos de evolução de pacientes com fasciculações "benignas" para casos de esclerose lateral amiotrófica, salientando a importância do seguimento dos pacientes com fasciculações.
Asunto(s)
Femenino , Humanos , Persona de Mediana Edad , Aminas/uso terapéutico , Anticonvulsivantes/uso terapéutico , Ácidos Ciclohexanocarboxílicos/uso terapéutico , Fasciculación/tratamiento farmacológico , Ácido gamma-Aminobutírico/uso terapéutico , Fasciculación/diagnósticoRESUMEN
La neuromiotonía es una afección que se presenta con endurecimiento muscular difuso, espasmos y/o acalmbres, usualmente asociados a hiperhidrosis, que pueden observarse en forma idiopática o secundaria. En 1961, Isaacs describió el síndrome en forma completa demostrando su origen en los nervios periféricos. Puede corresponder a patología hereditaria o adquirida, asociándopse a cuadros pareneoplásicos o autoinmunes, con o sin neuropatía periférica. Existe una sola coimunicación en la literatura de Síndrome de Isaacs con disfunción urinaria. Nosotros presentamos la primera descripción urodinámica realizada a una paciente con dicha entidad comprobando la presencia de una hiperreflexia rectal y del detrusor, hallazgos generalmente asociados a lesiones del SNC
Asunto(s)
Humanos , Adulto , Femenino , Fasciculación/diagnóstico , Incontinencia Urinaria , Neurofisiología , Urología , NeurologíaRESUMEN
La neuromiotonía es una afección que se presenta con endurecimiento muscular difuso, espasmos y/o acalmbres, usualmente asociados a hiperhidrosis, que pueden observarse en forma idiopática o secundaria. En 1961, Isaacs describió el síndrome en forma completa demostrando su origen en los nervios periféricos. Puede corresponder a patología hereditaria o adquirida, asociándopse a cuadros pareneoplásicos o autoinmunes, con o sin neuropatía periférica. Existe una sola coimunicación en la literatura de Síndrome de Isaacs con disfunción urinaria. Nosotros presentamos la primera descripción urodinámica realizada a una paciente con dicha entidad comprobando la presencia de una hiperreflexia rectal y del detrusor, hallazgos generalmente asociados a lesiones del SNC