Distúrbio neurológico raro que afeta a capacidade de planejar e sequenciar os movimentos musculares necessários para a fala, resultando em fala distorcida e de difícil compreensão, que piora progressivamente. A causa e a herança são desconhecidas.
Introdução
O que você precisa saber de cara
Visão geral
A apraxia progressiva primária da fala (conhecida internacionalmente como Primary progressive apraxia of speech) é uma condição clínica rara, classificada sob o código CID-10 G31.8 e identificador MONDO:0017803.[1]
Estima-se que sua prevalência na população seja inferior a 1 em 1.000.000 (<1 / 1 000 000), tendo sua idade de início tipicamente manifestada na fase adulta (Adult).[1]
Causas genéticas
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A **apraxia progressiva primária da fala** (PPAOS) é uma doença neurológica rara que surge na idade adulta e compromete a capacidade de programar e articular os movimentos da fala. Com o passar do tempo, a família costuma notar a lentificação da fala, esforço para pronunciar palavras e, em fases posteriores, **disfagia** (dificuldade de engolir). A condição não tem genes causadores conhecidos e ainda não consta na lista de protocolos clínicos (PCDT) com medicamentos dispensados pelo SUS. O cuidado no sistema público brasileiro é centralizado no atendimento em reabilitação para manter a funcionalidade e prevenir complicações na alimentação.
Distúrbio neurológico raro que afeta a capacidade de planejar e sequenciar os movimentos musculares necessários para a fala, resultando em fala distorcida e de difícil compreensão, que piora progressivamente. A causa e a herança são desconhecidas.
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
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Apraxia progressiva primária 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
Deep learning-derived measures of sound-level accuracy in primary progressive apraxia of speech: A feasibility pipeline with descriptive evidence from two cases.
Primary Progressive Apraxia of Speech (PPAOS) is a neurodegenerative motor speech disorder marked by disrupted speech planning and programming. This study demonstrates the implementation and interpretability of phonological-class-based posterior probability values generated by Phonet (a deep learning model) in two individuals with PPAOS (one phonetic, one prosodic predominant), across different speech rates and delayed auditory feedback (DAF) settings. Phonet generated frame-level posterior probabilities for phonological classes, which were aggregated and aligned with segment durations. The prosodic subtype showed higher, more stable articulatory values and improvements under DAF, while the phonetic subtype showed greater variability and sensitivity to condition changes. Results were consistent with expert articulatory judgements of sound errors. These findings demonstrate Phonet's potential to provide interpretable, segment-level measures of articulatory performance and suggest its utility in monitoring treatment-related articulatory changes in motor speech disorders. Further research is needed to assess its broader clinical applicability.
What Is in a Label? The Importance of Clinical Specificity and Challenges of Diagnostic Evolution in Progressive Speech-Language Disorders.
This viewpoint addresses the complexity of the nomenclature of progressive speech-language disorders, which often exists at the intersection of descriptive symptoms, clinical syndromes, and underlying neuropathology. Using primary progressive apraxia of speech (PPAOS) as an example, we explore how overlapping diagnostic frameworks employed by speech-language pathologists, neurologists, and other clinicians and researchers can lead to different diagnostic labels that may evolve throughout disease progression. These discrepancies and changes can complicate patient understanding, clinical care, and affect eligibility for clinical trials. We highlight the importance of diagnostic specificity, flexibility, and multidisciplinary collaboration in improving patient counseling, prognostication, treatment planning, and clinical research alignment, particularly in the context of the growing number of clinical trials and specialized, multidisciplinary clinics. This viewpoint explores how symptom-based, syndrome-based, and pathology-based diagnoses can work together to support patient care and research. Accurate and specific diagnosis of speech-language disorders has important implications for patient understanding of their condition, identity, prognostic accuracy, access to care, clinical trial enrollment, and treatment planning and efficacy. Misdiagnosis or vague labeling can result in inappropriate interventions, delayed support, and skewed research findings. We argue that multidisciplinary collaboration and flexibility in recognizing evolving symptom-based and syndrome-based labels over the disease course-and as the fields learn more-is essential to empower patients with accurate, actionable information. Embracing both the specificity and the complexity of progressive speech-language disorders can both enhance communication and facilitate research.
Clinicopathological and Neuroimaging Correlates of Disease Duration in Primary Progressive Apraxia of Speech.
Primary progressive apraxia of speech is a neurodegenerative disorder characterized by early, isolated speech impairment due to impairment of motor speech planning and programming. Patients with PPAOS have varying disease durations from the estimated onset of the first symptom to death. Clinicopathological and neuroimaging features related to disease duration are unknown for PPAOS. We determine whether clinical, neuroimaging, or pathological features are associated with disease duration in primary progressive apraxia of speech (PPAOS). We analyzed data from 41 PPAOS participants who were enrolled and longitudinally followed to death in NIH-funded studies over 15 years. Demographic, clinical, and genetic features were abstracted. Brain volumes of cortical, subcortical, and brainstem regions were calculated. Regional tau lesion count (burden) was assessed histologically. Spearman rank correlations were performed between disease duration and variables of interest, followed by multiple regression analyses. Disease duration did not correlate with any baseline demographic, clinical, or pathologic features. Shorter disease duration correlated with a faster rate of behavioral change and of apraxia of speech severity over time, smaller baseline volumes of the superior frontal lobe and supplementary motor cortex, and higher tau burden in the locus ceruleus (ρ = -0.5, p = 0.03). Multiple regression analysis identified rate of behavioral change and volume loss in the superior frontal lobe as key clinical and neuroimaging variables, respectively. In patients with PPAOS, we found shorter disease duration to be related to behavioral dyscontrol and involvement of the frontal lobe, as well as a higher burden of 4-repeat tau lesions in the locus ceruleus.
Understanding the mind-brain relationship through focal neurodegenerative pathology.
This paper considers the contribution that observations of neurodegenerative diseases can make to our understanding of the 'mind-brain' relationship. The theoretical context in which cognitive models have been implemented by evidence from brain-damaged patients and the contribution of neuroimaging are briefly described. Reasons why neurodegenerative pathologies, as 'systems' pathologies, are potentially useful in providing complementary information to that obtained in focal vascular pathologies are reported and two specific examples, semantic dementia and primary progressive apraxia of speech, are discussed. While recognising the role of functional neuroimaging, priority should be given to the study of patients with brain damage, especially of a neurodegenerative nature, to legitimise the relationship between specific functions and specific structures (systems).
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech.
Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms. The group with dysphagia had more motor speech symptoms and parkinsonism. Longitudinal analysis revealed that almost everyone developed dysphagia before dying; the average time to death after developing dysphagia was 5.43 years and complications of dysphagia resulted in mortality for 35% of the individuals for whom data were available. These results emphasize the need for dysphagia management and provide useful prognostic estimates.
Publicações recentes
Deep learning-derived measures of sound-level accuracy in primary progressive apraxia of speech: A feasibility pipeline with descriptive evidence from two cases.
What Is in a Label? The Importance of Clinical Specificity and Challenges of Diagnostic Evolution in Progressive Speech-Language Disorders.
Clinicopathological and Neuroimaging Correlates of Disease Duration in Primary Progressive Apraxia of Speech.
Understanding the mind-brain relationship through focal neurodegenerative pathology.
Cause of death for patients who present with primary progressive apraxia of speech.
📚 EuropePMC51 artigos no totalmostrando 70
Deep learning-derived measures of sound-level accuracy in primary progressive apraxia of speech: A feasibility pipeline with descriptive evidence from two cases.
Clinical linguistics & phoneticsWhat Is in a Label? The Importance of Clinical Specificity and Challenges of Diagnostic Evolution in Progressive Speech-Language Disorders.
American journal of speech-language pathologyClinicopathological and Neuroimaging Correlates of Disease Duration in Primary Progressive Apraxia of Speech.
European journal of neurologyUnderstanding the mind-brain relationship through focal neurodegenerative pathology.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCause of death for patients who present with primary progressive apraxia of speech.
Parkinsonism & related disordersDysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech.
Annals of clinical and translational neurologyNeuroradiological insights into primary progressive apraxia of speech: a case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyUnveiling the enigmatic: Primary progressive apraxia of speech - A case report.
Clinical parkinsonism & related disordersProgression of Motor Speech Function in Speakers With Primary Progressive Apraxia of Speech.
Journal of speech, language, and hearing research : JSLHRAutomatic Speech Recognition in Primary Progressive Apraxia of Speech.
Journal of speech, language, and hearing research : JSLHRIncidence of Primary Progressive Apraxia of Speech and Primary Progressive Aphasia in Olmsted County, MN, 2011-2022.
NeurologyClinicopathologic and Neuroimaging Correlations of Nonverbal Oral Apraxia in Patients With Neurodegenerative Disease.
NeurologyThe yes-no reversal phenomenon in patients with primary progressive apraxia of speech.
Cortex; a journal devoted to the study of the nervous system and behaviorMultimodal cross-examination of progressive apraxia of speech by diffusion tensor imaging-based tractography and Tau-PET scans.
Human brain mappingEfficacy of LSVT LOUD® on Phonatory Control and Voice Quality in Patients with Primary Progressive Apraxia of Speech: Case Studies.
Brain sciencesProgression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.
Journal of neurologyPrimary Progressive Apraxia of Speech Caused by TDP-43: A Case Report.
Neurology. GeneticsCharacterizing Speech Errors Across Primary Progressive Apraxia of Speech Subtypes.
Journal of speech, language, and hearing research : JSLHRAmyloid and Tau PET Positivity in Progressive Agrammatic Aphasia and Apraxia of Speech.
Journal of Alzheimer's disease : JADClinical dimensions along the non-fluent variant primary progressive aphasia spectrum.
Brain : a journal of neurologyBehavioral Treatment for Speech and Language in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech: A Systematic Review.
Neuropsychology reviewNeural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum.
Brain : a journal of neurologyAcoustic Analysis and Neuroimaging Correlates of Diadochokinetic Rates in Mild-Moderate Primary Progressive Apraxia of Speech.
Brain and languageSpeech Motor Profiles in Primary Progressive Aphasia.
American journal of speech-language pathologyPatterns of hemispheric compromise in primary progressive apraxia of speech: From clinical profiling to differential diagnosis.
European journal of neurologyClinicopathological associations of hemispheric dominance in primary progressive apraxia of speech.
European journal of neurologyShouting from far away: three poems about living with speechlessness.
Practical neurologyThe many faces of globular glial tauopathy: A clinical and imaging study.
European journal of neurologyFunctional connectivity to the premotor cortex maps onto longitudinal brain neurodegeneration in progressive apraxia of speech.
Neurobiology of agingCross-Sectional and Longitudinal Assessment of Behavior in Primary Progressive Apraxia of Speech and Agrammatic Aphasia.
Dementia and geriatric cognitive disordersTractography of supplementary motor area projections in progressive speech apraxia and aphasia.
NeuroImage. ClinicalA Preliminary Report of Network Electroencephalographic Measures in Primary Progressive Apraxia of Speech and Aphasia.
Brain sciencesPure Prosodic Type of Primary Progressive Apraxia of Speech Mimicking Nonfluent Aphasia and Later Progressing to Corticobasal Syndrome.
Alzheimer disease and associated disordersWord Fluency Test Performance in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech.
American journal of speech-language pathologyAssessing Change in Communication Limitations in Primary Progressive Apraxia of Speech and Aphasia: A 1-Year Follow-Up Study.
American journal of speech-language pathologySurvival Analysis in Primary Progressive Apraxia of Speech and Agrammatic Aphasia.
Neurology. Clinical practiceComing to Terms with a Conundrum: A Case of Primary Progressive Apraxia of Speech due to Corticobasal Degeneration?
Case reports in neurologySpeech rate increase in primary progressive apraxia of speech and its cost on articulatory accuracy.
Clinical linguistics & phoneticsNeuropsychological Profiles of Patients with Progressive Apraxia of Speech and Aphasia.
Journal of the International Neuropsychological Society : JINSPrimary Progressive Apraxia of Speech: From Recognition to Diagnosis and Care.
AphasiologyA Preliminary Look Into the Clinical Evolution of Motor Speech Characteristics in Primary Progressive Apraxia of Speech in Québec French.
American journal of speech-language pathologyProgressive apraxia of speech in Quebec French speakers: A case series.
International journal of language & communication disordersA Longitudinal Evaluation of Speech Rate in Primary Progressive Apraxia of Speech.
Journal of speech, language, and hearing research : JSLHRPrimary progressive apraxia of speech: A further piece in the progressive supranuclear/corticobasal degeneration spectrum jigsaw.
Parkinsonism & related disordersThe evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Parkinsonism & related disordersCommunication Limitations in Patients With Progressive Apraxia of Speech and Aphasia.
American journal of speech-language pathologyCorrigendum to "Prosodic and phonetic subtypes of primary progressive apraxia of speech" [Brain Lang. 184 (2018) 54-65].
Brain and languageLongitudinal flortaucipir ([18F]AV-1451) PET imaging in primary progressive apraxia of speech.
Cortex; a journal devoted to the study of the nervous system and behaviorElectroencephalography in Primary Progressive Aphasia and Apraxia of Speech.
AphasiologyWestern Aphasia Battery-Revised Profiles in Primary Progressive Aphasia and Primary Progressive Apraxia of Speech.
American journal of speech-language pathologyHigh frequency repetitive transcranial magnetic stimulation for primary progressive apraxia of speech: A case series.
Brain stimulationLanguage impairment in progressive supranuclear palsy and corticobasal syndrome.
Journal of neurologyPrimary Progressive Aphasias and Apraxia of Speech.
Continuum (Minneapolis, Minn.)Sub-classification of apraxia of speech in patients with cerebrovascular and neurodegenerative diseases.
Brain and cognitionClinical Progression in Four Cases of Primary Progressive Apraxia of Speech.
American journal of speech-language pathologyQuantitative Analysis of Agrammatism in Agrammatic Primary Progressive Aphasia and Dominant Apraxia of Speech.
Journal of speech, language, and hearing research : JSLHRProsodic and phonetic subtypes of primary progressive apraxia of speech.
Brain and languageDisrupted functional connectivity in primary progressive apraxia of speech.
NeuroImage. ClinicalNon-right handed primary progressive apraxia of speech.
Journal of the neurological sciencesClinical and imaging progression over 10 years in a patient with primary progressive apraxia of speech and autopsy-confirmed corticobasal degeneration.
NeurocaseTau-PET imaging with [18F]AV-1451 in primary progressive apraxia of speech.
Cortex; a journal devoted to the study of the nervous system and behaviorL'apport critique de l'évaluation de la communication dans le diagnostic précoce de l'apraxie primaire progressive de la parole.
Canadian journal on aging = La revue canadienne du vieillissementLongitudinal structural and molecular neuroimaging in agrammatic primary progressive aphasia.
Brain : a journal of neurologyA Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker.
Journal of speech, language, and hearing research : JSLHRA Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: III. Theoretical Coherence of the Pause Marker with Speech Processing Deficits in Childhood Apraxia of Speech.
Journal of speech, language, and hearing research : JSLHRTemporal acoustic measures distinguish primary progressive apraxia of speech from primary progressive aphasia.
Brain and languageTracking the development of agrammatic aphasia: A tensor-based morphometry study.
Cortex; a journal devoted to the study of the nervous system and behaviorPrimary Progressive Orofacial Apraxia: A Ten-Year Long Follow-Up Case Report.
Journal of Alzheimer's disease : JADWhen the left brain's away, the right will play--Emergent artistic proficiency in primary progressive apraxia of speech.
Cortex; a journal devoted to the study of the nervous system and behaviorPrimary progressive apraxia of speech: clinical features and acoustic and neurologic correlates.
American journal of speech-language pathologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Apraxia progressiva primária da fala.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Apraxia progressiva primária da fala e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma condição neurodegenerativa rara que acomete indivíduos adultos, caracterizada pela perda progressiva do controle motor e da programação da fala. A doença é identificada no sistema internacional pelo código Orphanet 314566 e categorizada no CID-10 G31.8.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
3 fontes citadas no texto · 6 publicações do grafo RarasNet (PubMed) · 4 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. (2026). Apraxia progressiva primária da fala. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/apraxia-progressiva-primaria-da-fala
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Apraxia progressiva primária 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
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
