A encefalite autoimune é uma doença inflamatória caracterizada por um comprometimento subagudo da memória de curto prazo, características psiquiátricas e convulsões. Está frequentemente associada a uma variedade de outros sintomas neurológicos e o seu diagnóstico diferencial é vasto, o que leva a desafios no seu reconhecimento. Costumava ser considerada uma doença rara, geralmente paraneoplásica e com mau prognóstico. No entanto, com o recente reconhecimento dos anticorpos, sabe-se agora que, numa proporção substancial de casos, não há associação com qualquer malignidade e há um bom prognóstico se for tratada. Por conseguinte, o reconhecimento precoce e o início imediato de imunoterapias são de grande importância.
Introdução
O que você precisa saber de cara
Doença neurológica rara caracterizada por rigidez muscular progressiva e espasmos involuntários (mioclonias), associada a inflamação do cérebro e medula espinhal. Causa deterioração neurológica e pode levar a dificuldades motoras e cognitivas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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🇧🇷 Atendimento SUS — Encefalomielite progressiva com rigidez e mioclonias
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Publicações mais relevantes
A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis.
Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor Antibodies: Clinical Features and Outcomes.
The aim of this study was to describe the clinical features and long-term outcome of patients with glycine receptor (GlyR) antibody-mediated progressive encephalomyelitis with rigidity and myoclonus (PERM), a disease commonly included under the term of stiff-person spectrum disorders (SPSDs). We conducted a retrospective analysis of patients with PERM and GlyR antibodies diagnosed in our laboratory and a systematic literature review (following Preferred Reporting Items for Systematic Reviews and Meta-Analyses [PRISMA] 2020 reporting guideline) of previously reported patients with sufficient clinical information and ≥12 months of follow-up. Neurologic disability was measured with the modified Rankin Scale (mRS). Relapses were defined as any event occurring >6 months after the first episode that required immunotherapy. Forty-one patients were identified, 22 from our database and 19 from the literature. The median age was 58 years (IQR: 43-66 years), and 36 (88%) were male and 5 female. The median time from symptom onset to admission was 2 weeks (IQR: 1-4 weeks). Predominant presentations included brainstem symptoms, mainly dysphagia and trismus, in 23 patients (56%); muscle stiffness and myoclonus in 9 (22%); dysesthesias or pruritus in 7 (17%); and cacosmia with dysgeusia in 2 (5%). Five patients (12%) never developed muscle stiffness. The median (range) mRS score at nadir was 5 (3-5). All patients received immunotherapy. Eleven patients died, 8 from complications of PERM. There were 12 relapses in 10 (28%) of 36 patients who lived >6 months. All relapses responded to immunotherapy. The functional status at the last visit, median time 24 months (IQR: 18-72 months), was good (mRS score <3) in 23 (70%) of the 33 patients who did not die from PERM. Age (HR: 1.06; 95% CI 1.01-1.11; p = 0.019) and admission to the intensive care unit (HR: 5.26; 95% CI 1.41-19.57, p = 0.013) were independent predictors of bad outcome (mRS score ≥3). GlyR antibody-mediated PERM is a rapidly progressive and severe disease that predominantly affects men and frequently presents with brainstem involvement. Its distinct demographic and clinical features suggest that it should be considered separately from SPSDs, which typically follows a chronic course and is more commonly associated with glutamic acid decarboxylase antibodies.
Clinical Features and Outcomes of Glutamic Acid Decarboxylase-65 Antibody-Associated Pure Cerebellar Ataxia and Stiff Person Syndrome Spectrum Disorders: A Single-Center Cohort Study.
Cerebellar ataxia is associated with greater disability in glutamic acid decarboxylase-65 (GAD65) antibody-associated neurological disorders and can occur in isolation or as part of stiff person syndrome (SPS) spectrum disorders (SPSD). We sought to phenotypically characterize this subpopulation with cerebellar dysfunction. Observational study of GAD65 antibody-seropositive individuals with cerebellar involvement seen at Johns Hopkins (1997-2024). Subjects were divided into two groups based on cerebellar dysfunction in the presence (SPSD; SPS-plus and progressive encephalomyelitis with rigidity and myoclonus [PERM]) or absence (pure cerebellar ataxia [pCA]) of classic SPS features. Clinical and paraclinical findings were analyzed descriptively. Seventy-two patients were selected among 356 (62 SPSD, 10 pCA). Mean age for patients with pCA was 58 ± 16 years versus 46 ± 15 years for SPSD (p = 0.012). Males comprised 50% of the pCA group versus 19% SPSD (p = 0.049). High GAD65 antibody serum titers occurred in 76% without group differences, while cerebrospinal fluid antibody positivity occurred in 35/37 (95%) of SPSD versus 5/8 (62%) pCA (p = 0.033). Although the modified Rankin scale was similar (median 3, interquartile range 2-4) in both groups, the brief ataxia rating scale indicated a higher burden of cerebellar abnormalities in pCA versus SPSD, and there was a trend toward greater cerebellar atrophy by MRI in pCA (p = 0.44). Rituximab and benzodiazepine use was more frequent in SPSD versus pCA. GAD65 antibody-associated ataxia is disabling irrespective of accompanying SPS features. Patients with pCA were older, more commonly male, and may have more frequent cerebellar atrophy than those with SPSD. Prospective validation of cerebellar outcomes and neuroimaging findings is needed.
Impaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.
Autoantibodies (aAbs) against glycine receptors (GlyRs) are mainly associated with the rare neurologic diseases stiff person syndrome (SPS) and progressive encephalomyelitis with rigidity and myoclonus (PERM). GlyR aAbs are also found in other neurologic diseases such as epilepsy. The aAbs bind to different GlyR α-subunits and, more rarely, also to the GlyR β-subunit. So far, studies on the pathogenic effects of the aAbs have focused on postsynaptic, heteromeric GlyRs, reporting a loss of ion channel function and receptor internalization upon aAb binding. We asked whether the aAbs also affect expression and functionality of presynaptic homomeric GlyRs. We established interneuron cultures from mouse embryonic spinal cord neurons and used protein biochemistry and super-resolution microscopy to determine aAb binding to presynaptic GlyRs in a uniform neuronal subpopulation. Brainstem slice recordings were used to detect functional alterations. Several days-long exposure of spinal cord cultures with GlyR aAbs did not change expression levels of proteins building a functional glycinergic synapse. A notable exception was the enhanced expression of presynaptic glycine transporter 2 (GlyT2), possibly reflecting an adaptation to altered synaptic properties. Super-resolution microscopy revealed rather similar binding of patient-derived aAbs to postsynaptic vs presynaptic sites with individual binding preferences. Although characterization of interneurons showed absence of GlyRα1 in some interneuron subpopulations, GlyRα2 and patient serum signals exhibited a significantly higher colocalization in samples with presynaptic preference. This finding identifies GlyRα2 as the hitherto unknown predominant presynaptic GlyR subunit in the spinal cord and a target of patient aAbs. Whole-cell recordings from glycinergic neurons in mouse brainstem slices underscored the functional relevance of presynaptic aAb binding demonstrated by a significant reduction in the frequency of spontaneous and miniature inhibitory postsynaptic potentials. In summary, our study is the first to implicate presynaptic defects in the pathophysiology of autoimmune diseases such as SPS and PERM, which are associated with GlyR aAbs. Individually tuned binding preferences for presynaptic and postsynaptic targets thus underlie the rather diverse appearance of clinical symptoms and different therapeutic responses in patients suffering from GlyR autoimmunity.
Progressive encephalomyelitis with rigidity and myoclonus initially diagnosed as an anxiety disorder associated with anti-glycine receptor antibodies: A case report.
Progressive encephalomyelitis with rigidity and myoclonus is a rare neurological disorder predominantly associated with anti-glycine receptor antibodies. It is characterized by rigidity, painful muscle spasms, sensory disturbances, brainstem and spinal cord involvement, autonomic dysfunction, respiratory distress, and sudden, spontaneous, or stimulus-induced myoclonus. A Chinese woman in her early 50s was admitted with acute-onset dysphagia, dysarthria, and stiffness in both lower limbs. Her initial symptoms included anxiety, recurrent myoclonic episodes, swallowing difficulties, and lower limb rigidity. The condition was initially diagnosed as an anxiety disorder, but the diagnosis was reconsidered after the patient's symptoms progressed despite adequate treatment for almost a year. Diagnostic workup on admission revealed anti-glycine receptor antibodies in the serum, which, along with the clinical presentation, confirmed the diagnosis of progressive encephalomyelitis with rigidity and myoclonus. The patient demonstrated improvement and clinical stabilization after treatment with intravenous immunoglobulin and immunotherapy. This case represents a rare instance of anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus that initially manifested as an anxiety disorder, later progressing to seizures, myoclonus, brainstem and spinal cord involvement, and autonomic dysfunction. We aim to raise awareness of the psychiatric clinical presentations of progressive encephalomyelitis with rigidity and myoclonus.
Publicações recentes
A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis.
Progressive encephalomyelitis with rigidity and myoclonus initially diagnosed as an anxiety disorder associated with anti-glycine receptor antibodies: A case report.
🥉 Relato de casoClinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report.
PERM associated with thymic carcinoma with triple-autoantibody positivity: case report and literature review.
Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor Antibodies: Clinical Features and Outcomes.
📚 EuropePMC61 artigos no totalmostrando 85
A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis.
BMC neurologyProgressive encephalomyelitis with rigidity and myoclonus initially diagnosed as an anxiety disorder associated with anti-glycine receptor antibodies: A case report.
The Journal of international medical researchClinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report.
Frontiers in immunologyPERM associated with thymic carcinoma with triple-autoantibody positivity: case report and literature review.
Journal of neuroimmunologyProgressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor Antibodies: Clinical Features and Outcomes.
Neurology(R) neuroimmunology & neuroinflammationBinding patterns of glycine receptor autoantibodies are related to clinical syndromes.
Acta neuropathologica communicationsClinical Features and Outcomes of Glutamic Acid Decarboxylase-65 Antibody-Associated Pure Cerebellar Ataxia and Stiff Person Syndrome Spectrum Disorders: A Single-Center Cohort Study.
European journal of neurologyProgressive encephalomyelitis with rigidity and myoclonus after thymectomy in a woman with myasthenia gravis.
Frontiers in immunologyEfficacy of apheresis in antibody-negative progressive encephalomyelitis with rigidity and myoclonus.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyImpaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.
Neurology(R) neuroimmunology & neuroinflammationVaricella zoster infection-associated progressive encephalomyelitis with rigidity and myoclonus in a 6-month follow-up.
BMJ case reportsCase report: orthostatic hypotension as the first presentation of progressive encephalomyelitis with rigidity and myoclonus (PERM) with multiple autoimmune antibodies.
BMC neurologyParaneoplastic progressive encephalomyelitis with rigidity and myoclonus associated with monoclonal B-cell lymphocytosis in the setting of longstanding methotrexate use: case report.
Frontiers in immunologyProgressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient.
Journal of clinical immunologyProgressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor and GAD65 Antibodies: Case Report and Potential Mechanisms.
Neurology(R) neuroimmunology & neuroinflammationCamptocormia in a young man with anti-GAD-seropositive stiff-person syndrome.
BMJ case reportsStiff Person Syndrome and GAD Antibody-Spectrum Disorders.
Continuum (Minneapolis, Minn.)Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure.
Internal medicine (Tokyo, Japan)Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review.
BMC pediatricsClinical features in antiglycine receptor antibody-related disease: a case report and update literature review.
Frontiers in immunologyNeuropsychiatric Presentation of Anti-DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus.
Movement disorders clinical practiceGlycine Receptor β-Targeting Autoantibodies Contribute to the Pathology of Autoimmune Diseases.
Neurology(R) neuroimmunology & neuroinflammationExpanding clinical profiles and prognostic markers in stiff person syndrome spectrum disorders.
Journal of neurologyAn update on malignant tumor-related stiff person syndrome spectrum disorders: clinical mechanism, treatment, and outcomes.
Frontiers in neurologyImmunotherapy-Responsive Neuropathic Pain and Allodynia in a Patient With Glycine Receptor Autoantibodies: A Case Report.
Neurology(R) neuroimmunology & neuroinflammationMotor symptoms in nonparaneoplastic CNS disorders associated with neural antibodies.
Handbook of clinical neurologyProgressive encephalomyelitis with rigidity and myoclonus (PERM) associated with anti-glycine receptor antibodies and urothelial carcinoma: a case report.
Journal of medical case reportsTherapeutic plasma exchange in the management of stiff person syndrome spectrum disorders: a case series and review of the literature.
Therapeutic advances in neurological disordersGlycine Receptor Antibody-Associated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) During SARS-CoV-2 Infection: a Video-Case Report.
Movement disorders clinical practiceGlial Fibrillary Acidic Protein Astrocytopathy Presenting as Progressive Encephalomyelitis with Rigidity and Myoclonus.
Movement disorders clinical practiceGlycine receptor autoantibody binding to the extracellular domain is independent from receptor glycosylation.
Frontiers in molecular neuroscienceCase report: Varicella-zoster virus infection triggering progressive encephalomyelitis with rigidity and myoclonus.
Frontiers in neurologyAnti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report.
Frontiers in neurologyAnti-amphiphysin-positive Progressive Encephalomyelitis with Rigidity and Myoclonus.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesPsychiatric Symptoms in Stiff-Person Syndrome: A Systematic Review and a Report of Two Cases.
Journal of the Academy of Consultation-Liaison PsychiatryProgressive Encephalomyelitis with Rigidity and Myoclonus Treated with Rituximab: Case Report and Review of the Literature.
The Brown journal of hospital medicineFacial Palsy as Initial Symptom in Glycine Receptor Antibody Positive Progressive Encephalomyelitis With Rigidity and Myoclonus: A Case Report.
Frontiers in neurologyInspiratory laryngeal stridor as the main feature of progressive encephalomyelitis with rigidity and myoclonus: a case report and literature review.
BMC neurologySevere dysautonomia in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus (PERM): A case report.
Autonomic neuroscience : basic & clinicalCommentary: Progressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma.
Movement disorders clinical practiceProgressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma.
Movement disorders clinical practiceProgressive encephalomyelitis with rigidity: A Taiwanese case and review of literature.
Clinical neurology and neurosurgeryCase Report: Dexmedetomidine for Intractable Clusters of Myoclonic Jerks and Paroxysmal Sympathetic Hyperactivity in Progressive Encephalomyelitis With Rigidity and Myoclonus.
Frontiers in neurologyProgressive encephalomyelitis with rigidity and myoclonus (PERM).
Practical neurologyThymoma and Autoimmune Encephalitis: Clinical Manifestations and Antibodies.
Neurology(R) neuroimmunology & neuroinflammation[Anti-NMDA Receptor Encephalitis].
Brain and nerve = Shinkei kenkyu no shinpoIliopsoas Hematomas in a Patient with Progressive Encephalomyelitis with Rigidity and Myoclonus.
Internal medicine (Tokyo, Japan)Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies.
Internal medicine (Tokyo, Japan)A fatal case of glycine receptor antibody-mediated autoimmune encephalitis.
Acta neurologica BelgicaLevodopa-responsive progressive encephalomyelitis with rigidity and myoclonus associated with glycine receptor antibodies.
Parkinsonism & related disordersProgressive Encephalomyelitis With Rigidity and Myoclonus With Thymoma: A Case Report and Literature Review.
Frontiers in neurologySystemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice.
Neuropathology and applied neurobiologyAutologous haematopoietic stem cell transplantation for refractory stiff-person syndrome: the UK experience.
Journal of neurologyTherapeutic considerations in a case of progressive encephalomyelitis with rigidity and myoclonus.
Journal of the neurological sciencesGlycine Receptor Autoantibodies Impair Receptor Function and Induce Motor Dysfunction.
Annals of neurologyParkinsonian Syndrome with Frontal Lobe Involvement and Anti-Glycine Receptor Antibodies.
Brain sciencesStiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity.
Journal of neuroimmunologySuccessful Treatment of Glycine-Receptor-Antibody-Mediated Progressive Encephalomyelitis with Rigidity and Myoclonus by Combining Steroids and Azathioprine.
Journal of clinical neurology (Seoul, Korea)Glycine receptor autoantibodies disrupt inhibitory neurotransmission.
Brain : a journal of neurologySPS: Understanding the complexity.
Journal of the neurological sciencesAnti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature.
Journal of neuroimmunologyUpdates in the Diagnosis and Treatment of Paraneoplastic Neurologic Syndromes.
Current oncology reportsPragmatic Treatment of Stiff Person Spectrum Disorders.
Movement disorders clinical practiceA case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon.
BMC neurologyProgressive Encephalomyelitis With Rigidity and Myoclonus Syndrome Presenting as Catatonia.
PsychosomaticsProgressive Encephalomyelitis with Rigidity and Myoclonus Resolving after Thymectomy with Subsequent Anasarca: An Autopsy Case.
Internal medicine (Tokyo, Japan)Early-Onset Creutzfeldt-Jakob Disease Mimicking Immune-Mediated Encephalitis.
Frontiers in neurologyProgressive encephalomyelitis with rigidity and myoclonus, a diagnostic challenge.
Revue neurologique[Stiff-Person Syndrome and Related Autoantibodies].
Brain and nerve = Shinkei kenkyu no shinpoGlycine receptor modulating antibody predicting treatable stiff-person spectrum disorders.
Neurology(R) neuroimmunology & neuroinflammation[From stiff man syndrome to stiff person spectrum disorders].
Der Nervenarzt[Progressive encephalomyelitis with rigidity and myoclonus : Stiff tongue as initial symptom].
Der NervenarztProgressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report.
Frontiers in neurologyThymoma-associated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) with Myasthenia Gravis.
Internal medicine (Tokyo, Japan)Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome.
Journal of movement disordersRedefining progressive encephalomyelitis with rigidity and myoclonus after the discovery of antibodies to glycine receptors.
Current opinion in neurologyGAD65 neurological autoimmunity.
Muscle & nerveAutoimmune movement disorders.
Handbook of clinical neurologyClinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports.
Tremor and other hyperkinetic movements (New York, N.Y.)Progressive encephalomyelitis with rigidity and myoclonus (PERM): brucellosis as a possible triggering factor and long-term follow-up therapy with rituximab.
Therapeutic advances in neurological disordersGlycine receptor antibodies and progressive encephalomyelitis with rigidity and myoclonus with predominant motor neuron degeneration--Expanding the clinical spectrum.
Journal of the neurological sciencesEpidemiology and outcomes of acute encephalitis.
Current opinion in neurology[A case of progressive encephalomyelitis with rigidity and myoclonus associated with anti-GAD, anti-glycine receptor and anti-GM1 antibodies].
Rinsho shinkeigaku = Clinical neurologySuccessful immune moderation treatment for progressive encephalomyelitis with rigidity and myoclonus.
Internal medicine (Tokyo, Japan)Progressive encephalomyelitis with rigidity and myoclonus: anesthesia and glycine receptor antibodies.
A & A case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Encefalomielite progressiva com rigidez e mioclonias.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis.
- Progressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor Antibodies: Clinical Features and Outcomes.
- Clinical Features and Outcomes of Glutamic Acid Decarboxylase-65 Antibody-Associated Pure Cerebellar Ataxia and Stiff Person Syndrome Spectrum Disorders: A Single-Center Cohort Study.
- Impaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.
- Progressive encephalomyelitis with rigidity and myoclonus initially diagnosed as an anxiety disorder associated with anti-glycine receptor antibodies: A case report.
- Clinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report.
- PERM associated with thymic carcinoma with triple-autoantibody positivity: case report and literature review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:438266(Orphanet)
- MONDO:0018581(MONDO)
- GARD:13110(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q56014170(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
