RESUMEN
BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Asunto(s)
Epilepsias Mioclónicas Progresivas , Convulsiones , Humanos , Epilepsias Mioclónicas Progresivas/complicaciones , Epilepsias Mioclónicas Progresivas/diagnóstico , Convulsiones/diagnóstico , Convulsiones/complicaciones , Convulsiones/etiología , Convulsiones/tratamiento farmacológico , Mioclonía/diagnóstico , Mioclonía/etiología , Mioclonía/complicaciones , Mioclonía/tratamiento farmacológico , Masculino , Canales de Potasio Shaw/genética , Femenino , Electroencefalografía/métodosRESUMEN
SUMMARY: Diagnosing and characterizing myoclonus can be challenging. Many authors agree on the need to complement the clinical findings with an electrophysiological study to characterize the movements. Besides helping to rule out other movements that may look like myoclonus, electrophysiology can help localize the source of the movement. This article aims to serve as a practical manual on how to do a myoclonus study. For this purpose, the authors combine their experience with available evidence. The authors provide detailed descriptions of recording poly-electromyography, combining electroencephalography and electromyography, Bereitschaftspotentials, somatosensory evoked potentials, and startle techniques. The authors discuss analysis considerations for these data and provide a simplified algorithm for their interpretation. Finally, the authors discuss some factors that they believe have hindered the broader use of these useful techniques.
Asunto(s)
Mioclonía , Humanos , Mioclonía/diagnóstico , Electroencefalografía/métodos , Electromiografía/métodos , Movimiento , Potenciales Evocados Somatosensoriales/fisiologíaAsunto(s)
COVID-19 , Ataxia Cerebelosa , Mioclonía , Humanos , Mioclonía/diagnóstico , Mioclonía/etiología , Ataxia , SíndromeRESUMEN
La mioclonía palatina esencial es una entidad otoneurológi-ca rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo.La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la reso-nancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea.Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea
Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus.In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.
Asunto(s)
Humanos , Femenino , Niño , Mioclonía/diagnóstico , Pediatría , Acúfeno , Mioclonía/terapiaRESUMEN
Essential palatal myoclonus is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective-clicking tinnitus. The palatal myoclonus is classified in two forms, secondary and essential palatal myoclonus. Primary (essential) palatal myoclonus is the most common type in childhood. Normal computed tomography and magnetic resonance guide the diagnosis. Spontaneous resolution usually occurs in the essential type of palatal myoclonus. In this report, we present an 8-year-old child making rhythmic, rapid clicking noises from her throat with spontaneous resolution.
La mioclonía palatina esencial es una entidad otoneurológica rara. Se caracteriza por movimientos involuntarios de los músculos del paladar blando que causan un tinnitus objetivo. La mioclonía del paladar se clasifica en dos tipos: secundaria y primaria (mioclonía palatina esencial); esta última es más frecuente en pediatría. La tomografía computada y la resonancia magnética de cerebro normal orientan al diagnóstico. La mioclonía palatina esencial, generalmente, se resuelve en forma espontánea. Se presenta a una paciente de 8 años de edad con un "clic" rápido en forma rítmica en su boca que cedía en forma espontánea.
Asunto(s)
Mioclonía , Acúfeno , Niño , Femenino , Humanos , Mioclonía/diagnóstico , Paladar BlandoRESUMEN
BACKGROUND: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. OBJECTIVE: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. METHODS: Non-systematic review of the literature published up to June 2019. RESULTS: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. CONCLUSION: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.
Asunto(s)
Distonía , Trastornos del Movimiento , Mioclonía , Electroencefalografía , Electromiografía , Humanos , Trastornos del Movimiento/diagnóstico , Mioclonía/diagnóstico , Neurofisiología , Temblor/diagnósticoRESUMEN
ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.
RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.
Asunto(s)
Humanos , Distonía , Trastornos del Movimiento/diagnóstico , Mioclonía/diagnóstico , Temblor/diagnóstico , Electroencefalografía , Electromiografía , NeurofisiologíaRESUMEN
BACKGROUND: Topiramate (TPM) is a fructose derivative, which was originally developed as an antiepileptic. In this context, movement disorders (MDs) are possible adverse events secondary to TPM. CASE REPORTS: Two patients (cases 1 and 2) developed myoclonus, and the other 2 had restless leg syndrome (RLS, cases 3 and 4). The mean age of the individuals (3 female patients) was 45.75 ± 21.28 years. All the individuals had a negative family history for movement and psychiatry disorders. Topiramate was started at 25 mg with a gradual increase of 25 mg every week. The mean time of onset and recovery of the MD were 1.37 ± 1.10 and 1.02 ± 0.77 months, respectively. The mean TPM dose was 87.5 ± 47.87 mg. Individual 1 presented with upper and lower limb jerks; individual 2 only with upper limb involvement. Individuals 3 and 4 experienced insomnia and nocturnal leg discomfort during inactivity with an urge to move the legs, which they denied having previously; the RLS symptoms occurred within approximately 1 to 3 hours of TPM evening dose. On neurological examination, no tremor or bradykinesia was observed; deep tendon reflexes, sensory examination, and strength were normal and preserved. Laboratory tests, neuroimaging, and electromyography were within normal. Topiramate was discontinued in all of the subjects. Full recovery was obtained in all cases. CONCLUSIONS: To the authors' knowledge, there are 6 cases of myoclonus, 5 RLS, 2 dystonia, 1 dyskinesia, and 1 periodic limb MD. The best management is probably the discontinuation of TPM, but in RLS patients, the addition of a dopaminergic agonist can be beneficial.
Asunto(s)
Mioclonía/inducido químicamente , Mioclonía/diagnóstico , Topiramato/efectos adversos , Adulto , Anciano , Anticonvulsivantes/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico , Mioclonía/fisiopatología , Síndrome de las Piernas Inquietas/inducido químicamente , Síndrome de las Piernas Inquietas/diagnósticoRESUMEN
Background: Myoclonic jerks are due to sudden, brief, involuntary muscle contractions, positive myoclonus, or brief cessation of ongoing muscular activity, negative myoclonus, and may be difficult to recognize. Case Report: We describe an immunocompetent, adult, male patient with sleep-related, multifocal, myoclonic jerks and neurotoxoplasmosis with abnormal cerebrospinal fluid but normal brain imaging. There was complete resolution of the myoclonus with antitoxoplasmosis therapy after 1 week, and no relapse after 1 year. Discussion: Neurotoxoplasmosis may be subtle in presentation, difficult to diagnose, and more common than realized, and it is being increasingly implicated in epileptogenesis in humans.
Asunto(s)
Mioclonía/diagnóstico , Toxoplasmosis Cerebral/diagnóstico , Adulto , Animales , Gatos , Exposición a Riesgos Ambientales , Humanos , Masculino , Mioclonía/tratamiento farmacológico , Toxoplasmosis Cerebral/tratamiento farmacológicoRESUMEN
Background: The clinical spectrum of anti-glutamic acid decarboxylase (GAD) antibody-associated neurologic syndromes is expanding, with focal, generalized, and atypical forms. Case Report: We describe a 59-year-old female showing continuous right lower limb myoclonus and mild encephalopathy. These symptoms started 2 weeks prior to evaluation. The patient had great improvement with intravenous steroids. An autoantibody panel was positive for anti-GAD. Discussion: Various clinical manifestations, including myoclonus, may relate to anti-GAD antibodies. The treatment options available include symptomatic drugs, intravenous immunoglobulin, steroids, and other immunosuppressant agents.
Asunto(s)
Autoanticuerpos/sangre , Glutamato Descarboxilasa/sangre , Mioclonía/sangre , Mioclonía/diagnóstico , Biomarcadores/sangre , Femenino , Glucocorticoides/administración & dosificación , Humanos , Pierna/patología , Metilprednisolona/administración & dosificación , Persona de Mediana Edad , Mioclonía/tratamiento farmacológicoRESUMEN
OBJECTIVE: We tested the hypothesis that there are readily classifiable electroencephalographic (EEG) phenotypes of early postanoxic multifocal myoclonus (PAMM) that develop after cardiac arrest. METHODS: We studied a cohort of consecutive comatose patients treated after cardiac arrest from January 2012 to February 2015. For patients with clinically evident myoclonus before awakening, 2 expert physicians reviewed and classified all EEG recordings. Major categories included: Pattern 1, suppression-burst background with high-amplitude polyspikes in lockstep with myoclonic jerks; and Pattern 2, continuous background with narrow, vertex spike-wave discharges in lockstep with myoclonic jerks. Other patterns were subcortical myoclonus and unclassifiable. We compared population characteristics and outcomes across these EEG subtypes. RESULTS: Overall, 401 patients were included, of whom 69 (16%) had early myoclonus. Among these patients, Pattern 1 was the most common, occurring in 48 patients (74%), whereas Pattern 2 occurred in 8 patients (12%). The remaining patients had subcortical myoclonus (n = 2, 3%) or other patterns (n = 7, 11%). No patients with Pattern 1, subcortical myoclonus, or other patterns survived with favorable outcome. By contrast, 4 of 8 patients (50%) with Pattern 2 on EEG survived, and 4 of 4 (100%) survivors had favorable outcomes despite remaining comatose for 1 to 2 weeks postarrest. INTERPRETATION: Early PAMM is common after cardiac arrest. We describe 2 distinct patterns with distinct prognostic significances. For patients with Pattern 1 EEGs, it may be appropriate to abandon our current clinical standard of aggressive therapy with conventional antiepileptic therapy in favor of early limitation of care or novel neuroprotective strategies. Ann Neurol 2016;80:175-184.
Asunto(s)
Electroencefalografía , Paro Cardíaco/complicaciones , Paro Cardíaco/diagnóstico , Mioclonía/complicaciones , Mioclonía/diagnóstico , Fenotipo , Estudios de Casos y Controles , Coma/complicaciones , Coma/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , PronósticoRESUMEN
Paroxysmal events in childhood are a challenge for pediatric neurologists, given its highly heterogeneous clinical manifestations, often difficult to distinguish between phenomena of epileptic seizure or not. The non-epileptic paroxysmal episodes are neurological phenomena, with motor, sensory symptoms, and/or sensory impairments, with or without involvement of consciousness, epileptic phenomena unrelated, so no electroencephalographic correlative expression between or during episodes. From the clinical point of view can be classified into four groups: motor phenomena, syncope, migraine (and associated conditions) and acute psychiatric symptoms. In this paper we analyze paroxysmal motor phenomena in awake children, dividing them according to their clinical manifestations: extrapyramidal episodes (paroxysmal kinesiogenic, non kinesiogenic and not related to exercise dyskinesias, Dopa responsive dystonia) and similar symptoms of dystonia (Sandifer syndrome); manifestations of startle (hyperekplexia); episodic eye and head movements (benign paroxysmal tonic upward gaze nistagmus deviation); episodic ataxia (familial episodic ataxias, paroxysmal benign vertigo); stereotyped and phenomena of self-gratification; and myoclonic events (benign myoclonus of early infancy). The detection of these syndromes will, in many cases, allow an adequate genetic counseling, initiate a specific treatment and avoid unnecessary additional studies. Molecular studies have demonstrated a real relationship between epileptic and non-epileptic basis of many of these entities and surely the identification of the molecular basis and understanding of the pathophysiological mechanisms in many of them allow us, in the near future will benefit our patients.
TITLE: Fenomenos paroxisticos no epilepticos motores en vigilia en la infancia.Los eventos paroxisticos en la infancia son un desafio para los neuropediatras por sus manifestaciones clinicas altamente heterogeneas, muchas veces dificiles de diferenciar entre fenomenos de origen epileptico o no epileptico. Los fenomenos paroxisticos no epilepticos son fenomenos neurologicos, episodicos, con sintomas motores, sensitivos o sensoriales, con o sin afectacion de la conciencia, no relacionados a fenomenos epilepticos, por lo cual no tienen correlato de expresion electroencefalografica entre o durante los episodios. Desde el punto de vista clinico, podemos clasificarlos en cuatro grandes grupos: fenomenos motores, sincopes, migraña (y condiciones asociadas) y cuadros psiquiatricos agudos. En este trabajo se analizan los fenomenos paroxisticos motores en vigilia, dividiendolos de acuerdo a sus manifestaciones clinicas en: episodios extrapiramidales (discinesias paroxisticas cinesiogenicas, no cinesiogenicas y relacionadas con el ejercicio, distonia sensible a levodopa) y cuadros simil distonia (sindrome de Sandifer); manifestaciones de sobresalto (hiperecplexia); movimientos episodicos oculares y cefalicos (desviacion tonica paroxistica de la mirada hacia arriba); ataxia episodica (ataxias episodicas autosomicas familiares y vertigo paroxistico benigno); estereotipias y fenomenos de autogratificacion; y eventos mioclonicos (mioclonias benignas de la infancia temprana). La deteccion de estos sindromes permitira, en muchos casos, realizar un asesoramiento genetico adecuado, instaurar un tratamiento especifico y evitar estudios complementarios innecesarios. Los estudios moleculares han demostrado una relacion entre las bases epilepticas y no epilepticas en muchas de estas entidades. Seguramente la identificacion de los aspectos moleculares y la comprension de los mecanismos fisiopatologicos de muchas de ellas permitiran en un futuro no muy lejano tratamientos especificos que beneficiaran a los pacientes.
Asunto(s)
Discinesias/fisiopatología , Mioclonía/fisiopatología , Convulsiones/fisiopatología , Vigilia/fisiología , Anticonvulsivantes/uso terapéutico , Ataxia/diagnóstico , Ataxia/etiología , Ataxia/fisiopatología , Vértigo Posicional Paroxístico Benigno , Niño , Preescolar , Diagnóstico Diferencial , Discinesias/diagnóstico , Discinesias/etiología , Distonía/diagnóstico , Distonía/tratamiento farmacológico , Distonía/fisiopatología , Electroencefalografía , Ejercicio Físico , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/tratamiento farmacológico , Trastornos del Movimiento/fisiopatología , Mioclonía/diagnóstico , Mioclonía/etiología , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , Convulsiones/genética , Autoestimulación , Trastorno de Movimiento Estereotipado/diagnóstico , Trastorno de Movimiento Estereotipado/fisiopatología , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/fisiopatología , Vértigo/diagnósticoRESUMEN
This study describes the clinical and electroencephalographic characteristics of epileptic spasms, and more especially those that occur during the first two years of life (infantile spasms). West syndrome has been clearly defined as the association between infantile spasms with an electroencephalographic pattern of hypsarrhythmia. Although intellectual deficit appears in almost all cases in which infantile spasms are not controlled with medication, this is a developmental aspect of the condition and not a manifestation that must necessarily be present in order to define the syndrome. The analysis of the interictal and ictal electroencephalogram readings, together with the clinical characteristics of the spasms and the neurological examination of patients, provides some orientation as regards the causations. Despite the spectrum that the title of this work focuses on, the study does not cover the treatment of early infants with West syndrome. Emphasis is placed on the differential diagnoses of West syndrome with other epileptic syndromes that manifest in the first two years of life, and more especially with a series of abnormal non-epileptic motor phenomena that occur in early infants. All these last non-epileptic disorders are displayed in a table, but benign myoclonus of early infancy or Fejerman syndrome is given as a paradigmatic example for the differential diagnosis. The primordial aim is to prevent neurologically healthy early infants from receiving antiepileptic drugs and even adrenocorticotropic hormone or corticoids due to a mistaken diagnosis.
TITLE: Diagnosticos diferenciales del sindrome de West.Se describen las caracteristicas clinicas y electroencefalograficas de los espasmos epilepticos, en especial de aquellos que ocurren durante los dos primeros años de vida (espasmos infantiles). Queda claramente definido que el sindrome de West constituye la asociacion de espasmos infantiles con un patron de hipsarritmia en el electroencefagrama. Si bien el deficit intelectual aparece en casi todos los casos cuyos espasmos infantiles no se controlan con la medicacion, se trata de un aspecto evolutivo de la condicion y no de una manifestacion obligatoriamente presente para definir el sindrome. El analisis de los electroencefalogramas interictales e ictales, junto con las caracteristicas clinicas de los espasmos y el examen neurologico de los pacientes permite una orientacion respecto a las etiologias. En funcion del espectro enfocado en el titulo de este trabajo, se ha omitido abarcar el tratamiento de los lactantes con sindrome de West. Se pone enfasis en los diagnosticos diferenciales del sindrome de West con otros sindromes epilepticos que se manifiestan en los dos primeros años de vida, y muy especialmente con una serie de fenomenos motores anormales no epilepticos en lactantes. En una tabla se incluyen todos estos ultimos trastornos no epilepticos, pero se detalla como paradigmatico para el diagnostico diferencial el sindrome de mioclonias benignas del lactante o sindrome de Fejerman. El objetivo primordial es evitar que lactantes neurologicamente sanos reciban medicaciones antiepilepticas e incluso hormona adrenocorticotropa o corticoides por error en el diagnostico.
Asunto(s)
Espasmos Infantiles/diagnóstico , Edad de Inicio , Encefalopatías/complicaciones , Preescolar , Diagnóstico Diferencial , Discinesias/diagnóstico , Distonía/diagnóstico , Electroencefalografía , Epilepsia Benigna Neonatal/diagnóstico , Humanos , Lactante , Mioclonía/diagnóstico , Parasomnias/diagnóstico , Espasmos Infantiles/epidemiología , Espasmos Infantiles/etiologíaRESUMEN
La mioclonía poshipoxia crónica o síndrome de Lance Adams es una complicación rara que se produce en pacientes que sobreviven a la hipoxia o la hipotensión prolongada, días o semanas después del daño cerebral. Se presentó un caso con este síndrome, secundario a shock hipovolémico por embarazo ectópico roto. El electroencefalograma con ausencia de paroxismos apoya el origen subcortical de las mioclonías, con respuesta favorable al alonazepán. Se detallaron estudios de neuroimagen y potenciales evocados auditivos de tallo cerebral(AU)
The chronic poshipoxia myoclonus or Lance Adams syndrome is a rare complication that occurs in patients who survive prolonged hypoxia or hypotension, days or weeks after the complication. A case with this syndrome, hypovolemic shock secondary to a ruptured ectopic pregnancy is presented. EEG with no paroxysms supports the origin of myoclonus subcortical with favorable response to alonazepán. Neuroimaging and auditory evoked potentials and brainstem studies were detailed(AU)
Asunto(s)
Humanos , Femenino , Adulto Joven , Mioclonía/diagnóstico , Mioclonía/etiología , Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/rehabilitaciónRESUMEN
La mioclonía poshipoxia crónica o síndrome de Lance Adams es una complicación rara que se produce en pacientes que sobreviven a la hipoxia o la hipotensión prolongada, días o semanas después del daño cerebral. Se presentó un caso con este síndrome, secundario a shock hipovolémico por embarazo ectópico roto. El electroencefalograma con ausencia de paroxismos apoya el origen subcortical de las mioclonías, con respuesta favorable al alonazepán. Se detallaron estudios de neuroimagen y potenciales evocados auditivos de tallo cerebral
The chronic poshipoxia myoclonus or Lance Adams syndrome is a rare complication that occurs in patients who survive prolonged hypoxia or hypotension, days or weeks after the complication. A case with this syndrome, hypovolemic shock secondary to a ruptured ectopic pregnancy is presented. EEG with no paroxysms supports the origin of myoclonus subcortical with favorable response to alonazepán. Neuroimaging and auditory evoked potentials and brainstem studies were detailed
Asunto(s)
Humanos , Femenino , Adulto Joven , Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/rehabilitación , Mioclonía/diagnóstico , Mioclonía/etiologíaRESUMEN
Mioclonias são movimentos involuntários de instalação súbita e de duração breve, de rara ocorrência (2%), mesmo em serviços especializados. São classificadas de acordo com a sua distribuição, origem e etiologia. O diagnóstico se baseia, fortemente, na apresentação clínica associada às alterações eletrofisiológicas. O tratamento medicamentoso deve ser orientado conforme a sua origem anatômica, destacando-se as seguintes drogas: clonazepam, levetiracetam, piracetam e valproato de sódio. A politerapia é mais eficaz do que a monoterapia, particularmente nas mioclonias de origem cortical. O objetivo desta revisão é enfatizar o diagnóstico e o tratamento atual das condições mais expressivas observadas na prática neurológica, tais como: distonia-mioclônica, mioclonia proprioespinhal, epilepsia com ausência mioclônica, síndrome de West, epilepsia mioclônica juvenil, doença por corpos de Lewy, degeneração corticobasal, panencefalite esclerosante subaguda, doença de Creutzfeldt-Jakob, síndrome de Lance-Adams, mioclonia induzida por drogas, mioclonia medular e mioclonia periférica.
Myoclonus are sudden, brief and rare abnormal movements. They can be classified according to their distribution, origin and etiology. The diagnosis is based largely on the clinical features associated with electrophysiological data. The treatment must be guided according to anatomical origin, highlighting the following drugs: clonazepam, levetiracetam, piracetam and sodium valproate. Polytherapies are more effective than monotherapy, particularly in cortical myoclonus. The aim of this review is to emphasize the current diagnosis and treatment of the more expressive morbid conditions seen in neurological practice, such as: myoclonus-dystonia, propriospinal myoclonus, epilepsy with myoclonic absences, West syndrome, juvenile myoclonic epilepsy, Lewy body disease, corticobasal degeneration, subacute sclerosing panencephalitis, Creutzfeldt-Jakob disease, Lance-Adams syndrome, drug-induced myoclonus, spinal myoclonus and peripheral myoclonus.
Asunto(s)
Humanos , Masculino , Preescolar , Niño , Discinesias , Mioclonía/clasificación , Mioclonía/diagnóstico , Mioclonía/tratamiento farmacológico , Espasmos Infantiles , Literatura de Revisión como Asunto , Síndrome de Creutzfeldt-Jakob , Epilepsia Mioclónica Juvenil , Anticonvulsivantes/uso terapéuticoRESUMEN
PURPOSE: Eyelid myoclonia and absences (EMA) induced by eye closure associated with brief, fast, and generalized paroxysms of polyspikes and waves was considered as an epileptic syndrome and a type of seizure as well. We analyzed the electroclinical features and evolution of EMA, and tried to determine if it represents a well-defined epileptic syndrome or a non-specific condition associated to other epilepsies. METHODS: Between June 1994 and June 2005, 63 patients who met diagnostic criteria of EMA were enrolled in the study and have been followed up to the present time. RESULTS: Two main groups could be identified. The first group was divided into two subgroups. One subgroup of 28 patients presented EMA associated with infrequent generalized tonic-clonic seizures (GTCS), and the other 1 of 9 patients presented early-onset EMA refractory to antiepileptic drugs (AEDs), associated or not with GTCS and mental retardation. Four of them had self-induced seizures. The second group included 26 patients with EMA associated with GTCS and/or massive myoclonias, or GTCS induced by intermittent photic stimulation. All these patients had electroclinical features compatible with idiopathic generalized epilepsies. CONCLUSION: In the first group, EMA should be considered as a photosensitive idiopathic epileptic syndrome. A subgroup of early-onset of EMA refractory to AEDs, associated or not with GTCS and mental retardation should also be considered as a variant or a distinct photosensitive idiopathic epileptic syndrome. Finally, in the second group EMA may correspond to a type of seizures in idiopathic generalized epilepsies.
Asunto(s)
Epilepsia/complicaciones , Mioclonía/diagnóstico , Mioclonía/fisiopatología , Convulsiones/complicaciones , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Diagnóstico por Imagen/métodos , Electroencefalografía , Epilepsia/diagnóstico , Femenino , Humanos , Lactante , Masculino , Mioclonía/tratamiento farmacológico , Examen Neurológico/métodos , Estudios Retrospectivos , Convulsiones/diagnósticoRESUMEN
Lance-Adams syndrome was described in 1963 is a rare complication due to recovered hypoxic episodes or prolonged hypotension events. Is characterized by action myoclonus and cerebellar ataxia. We report two patients studied with this syndrome. A 51 year-old men and a 72 years-old men fully recovered after a brief cardiorespiratory arrest they developed intention myoclonus, triggered by voluntary movements, posture, also by sounds, touches and emotional stimuli. It also was accompanied by cerebellar syndrome, ataxia and posture control alterations. They had a Magnetic Resonance (MR), EEG and normal metabolic parameters. Myoclonus was treated with sodium valproate and clonazepam. The neurophysiologic interpretation of this motor imbalance is an abnormal functioning of the Central Pattern Generator Netwoks (CPGN) located in the mesencephalic region. Hypoxic lesions in vermian purkinje and paravermal cerebellum neurons have an inhibitory effect in this system, producing motor control attenuation, generating an imbalance in the motoneurons of the spinal cord contraction sequence, which starts shooting in an uncoordinated way. As in almost all cerebellar lesions with time they tend to compensate and to diminish myoclonus.
El Síndrome de Lance-Adams descrito en 1963, es una rara complicación que sigue tardíamente a episodios hipóxicos o de hipotensión prolongada, ya recuperados. Se caracteriza por mioclonías de acción y ataxia cerebelosa. Se describen dos pacientes estudiados con este síndrome. Son dos hombres de 51 y 72 años que después de un paro cardiorrespiratorio breve, de recuperación completa, iniciaron mioclonías de intención, activadas por movimientos voluntarios, posturas, estímulos sonoros, táctiles y afectivos. Acompañado además de un síndrome cerebeloso, ataxia de la marcha y alteraciones del control postural. Cursaron con RM (Resonancia Magnética), EEG (Electroencefalograma) y parámetros metabólicos sin relevancia patológica. Las mioclonías fueron controladas con ácido valproico y clonazepam. La interpretación neurofisiológica de este desajuste motor es la alteración en el funcionamiento del patrón central de circuitos generadores (PCCG) ubicado en la región mesencefálica. Las lesiones hipóxicas de las neuronas de Purkinje del vermis y paravermianas del cerebelo, que tienen un efecto inhibitorio para este sistema, producen una atenuación del control motor del PCCG, generando desajuste en la secuencia de la contracción de las motoneuronas de la médula espinal, que comienzan a dispararse de manera independientemente. Como ocurre con la mayoría de las lesiones cerebelosas, con el tiempo tienden a compensarse y por consiguiente a disminuir las mioclonías.