Uma epilepsia rara e genética caracterizada por problemas de fala (que podem ir desde fala arrastada ou dificuldade para articular as palavras, dificuldade em coordenar os movimentos para falar, atraso ou perda da capacidade de entender e se expressar, perda da fala que já se tinha, até dificuldades mais leves na conversa do dia a dia) e por crises epilépticas (que geralmente começam na infância, na maioria das vezes focais — quando afetam uma parte específica do cérebro — ou que começam em uma parte e depois se espalham, e às vezes vêm acompanhadas de aura — um tipo de aviso antes da crise). Dificuldade intelectual, que pode variar de leve a grave, também pode ser observada.
Introdução
O que você precisa saber de cara
A síndrome de epilepsia rolândica-dispraxia da fala é uma doença genética rara que causa crises epilépticas e dificuldades motoras na fala. As famílias costumam perceber que a criança tem atraso importante para falar, voz anasalada, dificuldade para articular as palavras ou perda de habilidades de linguagem. As crises convulsivas geralmente começam na infância, podendo ocorrer de forma localizada ou se espalhar pelo corpo. No Brasil, o SUS oferece suporte por meio de exames como o exoma, reabilitação e fornecimento gratuito de diversos medicamentos para o controle das crises epilépticas.
Uma epilepsia rara e genética caracterizada por problemas de fala (que podem ir desde fala arrastada ou dificuldade para articular as palavras, dificuldade em coordenar os movimentos para falar, atraso ou perda da capacidade de entender e se expressar, perda da fala que já se tinha, até dificuldades mais leves na conversa do dia a dia) e por crises epilépticas (que geralmente começam na infância, na maioria das vezes focais — quando afetam uma parte específica do cérebro — ou que começam em uma parte e depois se espalham, e às vezes vêm acompanhadas de aura — um tipo de aviso antes da crise). Dificuldade intelectual, que pode variar de leve a grave, também pode ser observada.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, X-linked dominant.
Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked
A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.
Epilepsy, focal, with speech disorder and with or without impaired intellectual development
An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes.
Variantes genéticas (ClinVar)
843 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de epilepsia rolândica-dispraxia da fala
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
A Novel Candidate Neuromarker of Central Motor Dysfunction in Childhood Apraxia of Speech.
Childhood apraxia of speech (CAS) is conceived as an impairment of the central motor system's ability to program multiple speech movements, resulting in inaccurate transitions between and relative timing across speech sounds. However, the extant neuroimaging evidence base is scant and inconclusive, and the neurophysiological origins of these motor planning problems remain highly underspecified. In the first magnetoencephalography study of this disorder, we measured brain activity from typically developing (TD) children (N = 19, 11 males, 8 females) and children with CAS (N = 7 males) during performance of a speech task designed to interrogate function of the speech areas of the primary sensorimotor cortex. Relative to their TD peers, our sample of children with CAS showed abnormal speech-related responses within the mu-band motor rhythm, and beamformer source reconstruction analyses specify a brain origin of this speech rhythm in the left cerebral hemisphere, within or near pre-Rolandic motor areas crucial for the planning and control of speech and oromotor movements. These results provide a new and specific candidate mechanism for the core praxic features of CAS; point to a novel and robust neurophysiological marker of typical and atypical expressive speech development; and support an emerging neuroscientific consensus which assigns a central role for programming and coordination of speech movements to the motor cortices of the precentral gyrus.
Gerstmann's Syndrome and Limb Apraxia: A Single Case Study.
Gerstmann's syndrome (GS) represents a still debated clinical condition, in terms of both symptoms' evolution and neural correlates. In depth, repeated neuropsychological assessments along with advanced methods of lesion analysis can contribute to a better understanding of the syndrome and clinical diagnosis. The study reports a patient suffering from GS and limb apraxia following a left hemisphere lesion. Two in-depth assessments, at two and four months from the lesion onset, in addition to video material, document the symptoms over time. An in-depth analysis of the grey and white matter lesions was carried out with 3D reconstruction and a disconnection map. The patient shows the characteristic tetrad of GS symptoms in both subacute and chronic phases, in the absence of other clinically relevant sensorimotor or cognitive deficits. Limb apraxia persists over time as well. The neuroanatomical investigation shows the involvement of cortical damage in the inferior parietal cortex that extends to the superior parietal cortex, anteriorly to the peri-rolandic area and medially to the precuneus. Furthermore, disconnections in the fronto-parietal networks and the corpus callosum were identified. This single case study supports previous neuropsychological evidence and neuroanatomical findings on healthy participants, suggesting a core neural network underlying the four GS symptoms, which involves the left superior parietal lobe, the intraparietal cortices and the white matter parietal and fronto-parietal tracts. Furthermore, the involvement of the three branches of the superior longitudinal fasciculus explains the co-occurrence of limb apraxia.
Symptomatology and Neuropathology of patients presenting with focal cortical signs.
Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive speech disorder and abnormal behavior. She showed agraphia of the frontal lobe type, featured by the omission of kana letters when writing, other than pyramidal tract signs, pseudobulbar palsy, and frontal lobe dementia. Neuropathological examination, including TAR DNA-binding protein 43 (TDP-43) immunohistochemistry, revealed bilateral frontal and anterior temporal lobe lesions accentuated in the precentral gyrus and posterior part of the middle frontal gyrus. Both upper and lower motor neurons showed pathological changes compatible with amyotrophic lateral sclerosis. Case 2 was a 62-year-old man with progressive speech disorder and hand clumsiness. He had a motor speech disorder, compatible with apraxia of speech, and limb apraxia of the limb-kinetic and ideomotor type. Neuropathological examination revealed degeneration in the left frontal lobe, including the precentral gyrus, anterior temporal, and parietal lobe cortices. Moreover, numerous argyrophilic neuronal intracytoplasmic inclusions (Pick body) and ballooned neurons were observed in these lesions and the limbic system. The pathological diagnosis was Pick disease involving the peri-Rolandic area and parietal lobe. In these two cases, the distribution of neuropathological changes in the cerebral cortices correlated with the clinical symptoms observed.
Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group.
self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.
Brain damage associated with apraxia of speech: evidence from case studies.
The site of crucial damage that causes acquired apraxia of speech (AOS) has been debated in the literature. This study presents five in-depth cases that offer insight into the role of brain areas involved in AOS. Four of the examined participants had a primary impairment of AOS either with (n = 2) or without concomitant mild aphasia (n = 2). The fifth participant presented with a lesion relatively isolated to the left anterior insula (AIns-L), damage that is rarely reported in the literature, but without AOS. Taken together, these cases challenge the role of the AIns-L and implicate the left motor regions in AOS.
Publicações recentes
Gerstmann's Syndrome and Limb Apraxia: A Single Case Study.
A Novel Candidate Neuromarker of Central Motor Dysfunction in Childhood Apraxia of Speech.
Symptomatology and Neuropathology of patients presenting with focal cortical signs.
Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group.
Brain damage associated with apraxia of speech: evidence from case studies.
📚 EuropePMCmostrando 6
Gerstmann's Syndrome and Limb Apraxia: A Single Case Study.
Archives of clinical neuropsychology : the official journal of the National Academy of NeuropsychologistsA Novel Candidate Neuromarker of Central Motor Dysfunction in Childhood Apraxia of Speech.
The Journal of neuroscience : the official journal of the Society for NeuroscienceSymptomatology and Neuropathology of patients presenting with focal cortical signs.
Neuropathology : official journal of the Japanese Society of NeuropathologyOral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group.
Arquivos de neuro-psiquiatriaBrain damage associated with apraxia of speech: evidence from case studies.
NeurocaseLesion correlates of impairments in actual tool use following unilateral brain damage.
NeuropsychologiaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome de epilepsia rolândica-dispraxia da fala e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A doença tem origem genética e está associada a mutações nos genes SRPX2 e GRIN2A. A herança pode ser transmitida de modo autossômico dominante ou ligada ao cromossomo X dominante.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Síndrome de epilepsia rolândica-dispraxia da fala. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-de-epilepsia-rolandica-dispraxia-da-fala
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome de epilepsia rolândica-dispraxia da fala
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub