A Síndrome de Hipoplasia Cerebelar e Degeneração Tapetorretiniana é uma condição rara que tem como principal característica uma má-formação no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ela se manifesta com o cerebelo sendo menor ou menos desenvolvido que o normal, alterações de pigmentação na retina dos dois olhos, deficiência intelectual que pode variar de leve a moderada, e um atraso bem acentuado no desenvolvimento da fala e da linguagem. Os sintomas incluem um atraso no desenvolvimento da criança desde cedo, problemas de visão que não pioram com o tempo, afetando tanto o centro quanto a lateral do campo de visão. Em alguns casos, as alterações na retina podem não causar nenhum sintoma visual. Também pode apresentar tônus muscular baixo, dificuldade de coordenação motora que não piora, e nistagmo (movimentos involuntários e repetitivos dos olhos).
Introdução
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A Síndrome de Hipoplasia Cerebelar e Degeneração Tapetorretiniana é uma condição rara que tem como principal característica uma má-formação no cerebelo (a parte do cérebro que controla o equilíbrio e a coordenação). Ela se manifesta com o cerebelo sendo menor ou menos desenvolvido que o normal, alterações de pigmentação na retina dos dois olhos, deficiência intelectual que pode variar de leve a moderada, e um atraso bem acentuado no desenvolvimento da fala e da linguagem. Os sintomas incluem um atraso no desenvolvimento da criança desde cedo, problemas de visão que não pioram com o tempo, afetando tanto o centro quanto a lateral do campo de visão. Em alguns casos, as alterações na retina podem não causar nenhum sintoma visual. Também pode apresentar tônus muscular baixo, dificuldade de coordenação motora que não piora, e nistagmo (movimentos involuntários e repetitivos dos olhos).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 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
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)
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Frontiers in neurology[18F]PI-2620 Binding Patterns in Patients with Suspected Alzheimer Disease and Frontotemporal Lobar Degeneration.
Journal of nuclear medicine : official publication, Society of Nuclear MedicineProgressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Clinical geneticsMonocular Torsional Oscillopsia in Dentato-olivary Disconnection.
Cerebellum (London, England)Anti-Ma2 Antibody-Mediated Paraneoplastic Cerebellar Degeneration and Myeloneuropathy Secondary to Lymphoma.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyLhermitte-Duclos Disease: A Case Series.
CureusMagnetic Susceptibility in Progressive Supranuclear Palsy Variants, Parkinson's Disease, and Corticobasal Syndrome.
Movement disorders : official journal of the Movement Disorder SocietyGrey-matter correlates of empathy in 4-Repeat Tauopathies.
NPJ Parkinson's diseaseImmune-mediated ataxias: Guide to clinicians.
Parkinsonism & related disordersA child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.
Italian journal of pediatricsNovel histotypes of sporadic Creutzfeldt-Jakob disease linked to 129MV genotype.
Acta neuropathologica communicationsAssessment and tailored physical rehabilitation approaches in persons with cerebellar impairments targeting mobility and walking according to the International Classification of Functioning: a systematic review of case-reports and case-series.
Disability and rehabilitationDetection of High-Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins.
Annals of neurologyAtaxia-telangiectasia clinical trial landscape and the obstacles to overcome.
Expert opinion on investigational drugsParaneoplastic Cerebellar Degeneration Accompanied by Seropositivity for Anti-GAD65, Anti-SOX-1 and Anti-VGCC Antibodies Due to Small-cell Lung Cancer.
Internal medicine (Tokyo, Japan)Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Neurobiology of diseaseParaneoplastic Syndromes Associated with Gynecologic Neoplasms: Experience from a Tertiary Care Center in South India.
South Asian journal of cancerA chlorzoxazone-folic acid combination improves cognitive affective decline in SCA2-58Q mice.
Scientific reportsBiallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain : a journal of neurologyDisability in cerebellar ataxia syndromes is linked to cortical degeneration.
Journal of neurologyNon-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Advances in experimental medicine and biology[Hodgkin's lymphoma: sensitive and autonomic neuropathy as a paraneoplastic manifestation].
MedicinaAtaxia-Telangiectasia: A Case Report and a Brief Review.
CureusPhenotypic and genetic aspects of hereditary ataxia in dogs.
Journal of veterinary internal medicineCANVAS, a sensory neuronopathy to look for in ataxia.
Revue neurologiqueHistorical and More Common Nongenetic Movement Disorders From Asia.
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Brain and nerve = Shinkei kenkyu no shinpoClinical availability of eye movement during reading.
Neuroscience researchCase report: Anti-CARPVIII autoantibody-associated mixed dementia.
Frontiers in psychiatryThe Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.
CellsV180I genetic Creutzfeldt-Jakob disease: Severe degeneration of the inferior olivary nucleus in an autopsied patient with identification of the M2T prion strain.
Neuropathology : official journal of the Japanese Society of NeuropathologyAnti-Yo paraneoplastic cerebellar degeneration in a patient with stage IV ovarian adenocarcinoma during bevacizumab maintenance therapy.
BMJ case reportsThe genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet journal of rare diseasesFunctional Connectivity From Disease Epicenters in Frontotemporal Dementia.
NeurologyAnti-Zic4 Paraneoplastic Cerebellar Degeneration With Mesial Temporal Lobe Hyperintensity in a Patient With Papillary Thyroid Carcinoma: A Case Report and Review of the Literature.
CureusCoordination and Cognition in Pure Nutritional Wernicke's Encephalopathy with Cerebellar Degeneration after COVID-19 Infection: A Unique Case Report.
Journal of clinical medicineCerebellar cognitive affective syndrome with psychotic features in a patient with hypertrophic olivary degeneration.
The Clinical neuropsychologistSeptin-3 autoimmunity in patients with paraneoplastic cerebellar ataxia.
Journal of neuroinflammationPalatal myoclonus and hypertrophic olivary degeneration following wernekinck commissure syndrome: a case report.
BMC neurology[Non-cerebellar ataxias: posterior column-like ataxia and cerebellar-like ataxia].
Rinsho shinkeigaku = Clinical neurologyA cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration.
European journal of neurologyA Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model.
Cerebellum (London, England)Cerebrospinal Fluid Homer-3 Autoantibodies in a Patient with Amnestic Mild Cognitive Impairment.
Brain sciencesHigh-grade B-cell lymphoma with gastroduodenal involvement showing paraneoplastic cerebellar degeneration: a case report.
Translational cancer researchSlc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.
Human molecular geneticsThe importance of olivary hypertrophic degeneration as a differential diagnosis in cerebellar mutism syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDeletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors.
International journal of molecular sciencesAn Etiological Investigation of Paraneoplastic Cerebellar Degeneration in Ovarian Cancer Patients: A Systematic Review.
CureusFetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyNodular Sclerosing Hodgkin Lymphoma With Paraneoplastic Cerebellar Degeneration.
Federal practitioner : for the health care professionals of the VA, DoD, and PHSCreutzfeldt-Jakob Disease: A Case Report and Literature Review for Understanding the Big Picture.
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Journal of family medicine and primary care[Neuropathological Findings in Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome].
Brain and nerve = Shinkei kenkyu no shinpoOut of LINE: Transposons, genome integrity, and neurodegeneration.
NeuronA rare case of cerebellar degeneration due to primary Sjogren's syndrome.
ARP rheumatologyClinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.
Neuropathology : official journal of the Japanese Society of NeuropathologyPearls & Oy-sters: Vibration-Induced Downbeat Nystagmus: A New Cerebellar Sign Observed in Paraneoplastic Syndrome.
NeurologyRare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges.
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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.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.
- Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.
- The spectrum of movement disorders in neurosyphilis: A systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41493643mais citado
- Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.
- CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
- Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
- Disability in cerebellar ataxia syndromes is linked to cortical degeneration.
- CANVAS, a sensory neuronopathy to look for in ataxia.
- Palatal myoclonus and hypertrophic olivary degeneration following wernekinck commissure syndrome: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2246(Orphanet)
- MONDO:0016392(MONDO)
- GARD:1196(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55786188(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