A Síndrome de Paraplegia Espástica, Neuropatia e Poiquilodermia é uma forma complexa de paraplegia espástica hereditária, uma condição que causa rigidez e fraqueza nas pernas e é transmitida geneticamente. Ela se caracteriza por: a própria paraplegia espástica; um problema nos nervos das mãos e pés que afeta a sensibilidade e os movimentos e que danifica a capa protetora dos nervos (conhecido como neuropatia periférica sensório-motora desmielinizante); uma alteração na pele chamada poiquilodermia, que se manifesta na infância com perda de sobrancelhas e cílios, além de deixar a pele delicada, lisa e fina; e o enfraquecimento ou a perda de massa muscular nas extremidades do corpo (amiotrofia distal), que surge após a puberdade. Não foram encontradas mais descrições desta síndrome na literatura médica desde 1992.
Introdução
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A Síndrome de Paraplegia Espástica, Neuropatia e Poiquilodermia é uma forma complexa de paraplegia espástica hereditária, uma condição que causa rigidez e fraqueza nas pernas e é transmitida geneticamente. Ela se caracteriza por: a própria paraplegia espástica; um problema nos nervos das mãos e pés que afeta a sensibilidade e os movimentos e que danifica a capa protetora dos nervos (conhecido como neuropatia periférica sensório-motora desmielinizante); uma alteração na pele chamada poiquilodermia, que se manifesta na infância com perda de sobrancelhas e cílios, além de deixar a pele delicada, lisa e fina; e o enfraquecimento ou a perda de massa muscular nas extremidades do corpo (amiotrofia distal), que surge após a puberdade. Não foram encontradas mais descrições desta síndrome na literatura médica desde 1992.
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
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 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)
🇧🇷 Atendimento SUS — Síndrome de paraplegia espástica-neuropatia-poiquilodermia
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Other features of the condition can include psychiatric comorbidities (ADHD, anxiety, depression), infant feeding difficulties leading to early growth failure, hyperprolactinemia, growth hormone deficiency, sleep issues, and autonomic dysfunction; many of these features can be ameliorated by appropriate treatment. In treated individuals, development often improves during adolescence, with many adults having a normal IQ level. In the mild (peripheral) form, affected individuals are usually asymptomatic apart from an increase in phenylalanine (Phe) levels. Some remain asymptomatic. However, with time, some have mild developmental delays and can develop deficiency of neurotransmitter production, such that treatment of some asymptomatic individuals may be required. The biochemical diagnosis of PTPSD is established in a proband with confirmed hyperphenylalaninemia, elevated neopterin levels, reduced biopterin levels, and a decreased biopterin-to-neopterin ratio in urine or dried blood spots (DBS) and normal dihydropteridine reductase (DHPR) activity in DBS. The molecular diagnosis of PTPSD is established in a proband by identification of biallelic pathogenic (or likely pathogenic) variants in PTS by molecular genetic testing. Targeted therapies: Immediate therapy with sapropterin (tetrahydrobiopterin dihydrochloride; BH4), a cofactor/cosubstrate of PAH, is recommended to reduce blood Phe concentrations in individuals with hyperphenylalaninemia. If sapropterin is not available, dietary Phe restriction should be implemented. Because sapropterin has limited access to the central nervous system (CNS), or rather, this access is only achieved at high doses, therapy with sapropterin does not normalize the activity of tyrosine or tryptophan hydroxylase in people with PTPSD. Additional treatment strategies are necessary for long-term management and may include the use of neurotransmitter precursors (levodopa plus decarboxylase inhibitor (DCI), i.e., carbidopa or benserazide), 5-hydroxytryptophan, and/or dopamine (rotigotine patch, pramipexole) and/or serotonin agonists, or other medications (MAO inhibitors such as selegiline) to address specific neurotransmitter deficiencies and maintain optimal neurologic function. Supportive care: Optimization of dosage and intervals of levodopa/DCI in those with abnormal movements/parkinsonism; growth hormone supplementation and/or optimization of neurotransmitter precursor therapy for growth hormone deficiency; optimization of neurotransmitter precursor therapy for recurrent hyperthermia; anticholinergic treatment may be considered for hypersalivation; standard treatment for developmental delay, spasticity, epilepsy, sleep disorders, and decreased bone mineral density. Biochemical surveillance: Routine Phe monitoring in infants (age <1 year) weekly until normalized and then every three to six months once levels normalize; every six months in children younger than age 12 years; and every six to 12 months in adolescents and adults; the Phe target ranges correspond to those of PAH deficiency. Prolactin level at each visit. Routine clinical visits with a metabolic specialist (and metabolic dietician if on Phe-restricted diet) every one to three months in infants (age <1 year), every three to six months between ages one and seven years, and every six to 12 months in those age eight years and older. General surveillance: At each visit, measure growth parameters and evaluate nutritional status; asses for new neurologic manifestations (changes in tone, seizures, movement disorders); monitor developmental progress and assess educational needs; monitor for behavioral issues (anxiety, ADHD, emotional dysregulation, depression, aggression); and assess for signs and symptoms of sleep disorders. At ages two, six, 12, and 18 years, consider neuropsychological evaluation. In adulthood, periodic parathormone levels and DXA scan. As needed, consider EEG to differentiate from movement disorder seizures. Agents/circumstances to avoid: Persons with PTPSD on Phe-reduced diet should either avoid products containing aspartame or calculate total intake of Phe when using such products and adapt diet components accordingly. Evaluation of relatives at risk: If prenatal genetic testing has not been performed, each at-risk newborn sib should be evaluated immediately (at or just after 24 hours) after birth for PTPSD using measurement of blood Phe concentration to allow for earliest possible diagnosis and treatment. If older sibs have not undergone NBS or genetic testing for the known familial pathogenic variants in PTS, measure blood Phe concentrations to clarify their disease status. Pregnancy management: Women with PTPSD who have received appropriate treatment throughout childhood and adolescence and during pregnancy may have offspring with normal intellectual and behavioral development, particularly if levels of Phe are kept in the normal range during pregnancy. Intensive clinical and biochemical supervision by a multidisciplinary team before, during, and after pregnancy in a woman with PTPSD is essential to control the symptoms of the disease, adjust the treatment if needed, and monitor the development of the fetus. If the affected woman has elevated blood Phe concentrations during pregnancy, the fetus is at high risk for maternal phenylketonuria (MPKU) syndrome (reported specifically in women who have PAH deficiency as the primary cause of their elevated Phe levels), including malformations and intellectual disability, since Phe is a potent teratogen. PTPSD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a PTS pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial PTS pathogenic variants. Children born of one parent with PTPSD and one parent with two normal PTS alleles are obligate heterozygotes. If the mother is the affected parent, MPKU syndrome is a critical issue. Females with PTPSD should receive counseling regarding the teratogenic effects of elevated maternal plasma Phe concentration (i.e., MPKU syndrome) when they reach childbearing age. Once the PTS pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing for PTPSD are possible.
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The Journal of the Association of Physicians of IndiaVisual hallucinations due to oral baclofen withdrawal.
Medicina clinicaSevere Bradyarrhythmia and Reduced Cardiac Output Due to Oral Baclofen Withdrawal in a 24-Year Old Man: A Case Report.
The American journal of case reportsExpanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.
Clinical medicine insights. PediatricsMolecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
Brain : a journal of neurologyCase Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.
Frontiers in geneticsGenetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.
Journal of the peripheral nervous system : JPNSBLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
medRxiv : the preprint server for health sciencesA Hematologic Twist: Zinc-Induced Copper Deficiency Mimicking Myelodysplastic Syndrome.
Cureus[Myoadaptive overload syndromes of lower extremities in multiple sclerosis patients].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCase report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.
MedicinePRKAG2 Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?
Muscles (Basel, Switzerland)Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.
Frontiers in immunologyAtypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyExome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.
European journal of human genetics : EJHGYield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy.
Pediatric neurology"Crab sign" in an ataxia patient with central nervous system Erdheim Chester disease: a novel neuroimaging finding with review of literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHigh-Frequency Transcutaneous Electrical Nerve Stimulation in the Management of Pyramidal Tract-Related Spasticity: A Systematic Review.
CureusManagement of the Clenched Fist in Adult Patients with Upper Motor Neuron Syndrome.
The journal of hand surgery Asian-Pacific volumeYouTube as a Source of Patient Information for Cerebral Palsy.
Healthcare (Basel, Switzerland)Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.
NutrientsPathophysiology of Achalasia.
DigestionAntemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.
Journal of neuropathology and experimental neurologySclerotherapy for Management of Intrathecal Pump Seroma Formation: A Case Series.
Pain medicine case reportsComprehensive Examination of Upper-Extremity Spasticity.
The Journal of hand surgeryRegional Anesthesia With Levobupivacaine in a Patient With a RyR2 Gene Mutation After Cardiac Arrest: A Case Report.
CureusMaternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Gene[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA review about muscle focal vibration contribution on spasticity recovery.
Frontiers in neurologyIdentifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
Clinical geneticsGait abnormalities in children with FOXP1 syndrome: A case series.
Journal of pediatric rehabilitation medicineSubacute Combined Degeneration Presenting With Prominent Autonomic Symptoms 12 Years After Total Gastrectomy: A Case Report.
CureusThe Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.
American journal of medical genetics. Part AGenome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsA Report of a Child with SEC31A-Related Neurodevelopmental Disorder.
International journal of molecular sciencesHeterotopic calcification in a child presenting as acute on chronic myelopathy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFunctional improvement by tendon transfer for residual wrist dysfunction after botulinum therapy for severe upper limb spasticity: a case report.
Journal of medical case reportsFrench guidelines for the diagnosis and management of pure hereditary spastic paraplegia.
Revue neurologiqueA rare case of Pott's Disease in a 10-year-old female patient of Indian origin.
Przeglad epidemiologicznySelection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.
Advances and technical standards in neurosurgeryEfficacy and Safety of Combined Treatment with Traditional Herbal Medicine and Western Medicine for Children with Pertussis-like Syndrome: Systematic Review and Meta-Analysis.
Healthcare (Basel, Switzerland)Zinc-Induced Copper Deficiency Myeloneuropathy Masquerading as Paraneoplastic Syndrome: A Case Report.
CureusKeratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.
Ophthalmic geneticsPrimary Lateral Sclerosis: Implications for Diagnostic Criteria From a Natural History Study in the Netherlands.
NeurologyA case report of Kounis syndrome presenting with coronary angina pectoris and coronary microcirculatory disturbance, resulting in takotsubo cardiomyopathy-like changes.
European heart journal. Case reportsSpastic paraplegia with short stature: Think of Troyer syndrome.
Acta neurologica BelgicaFrench protocol for diagnosis and management of type 1 interferonopathies.
La Revue de medecine interneA Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.
Clinical geneticsUltra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.
Ophthalmic surgery, lasers & imaging retinaIndication of Implantable Cardioverter Defibrillators for Ventricular Arrhythmias in Coronary Spastic Angina.
Pacing and clinical electrophysiology : PACEFurther Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
American journal of medical genetics. Part AExpanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.
Molecular biology reportsNew Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceMotor phenotypes of amyotrophic lateral sclerosis - a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction.
Neurological research and practiceApplicability of the Instrumented Pendulum Test for Assessing Limb Viscoelastic Properties in Neurological and Internal Diseases: A Narrative Review.
Life (Basel, Switzerland)Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Movement disorders : official journal of the Movement Disorder SocietySevere Case of Intrathecal Baclofen Withdrawal: A Case Report.
CureusThe Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Developmental neurobiologyArginase 1 deficiency: a treatable form of spastic paraplegia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyIncidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
Orphanet journal of rare diseasesManagement Approaches to Spastic Gait Disorders.
Muscle & nerveHeterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.
Neurological research and practiceHighly Aggressive Multiple Sclerosis Relapse During Pregnancy Following SARS-CoV-2 Infection: A Case Report and Literature Review.
CureusDelayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.
CureusSensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging.
BiomedicinesThe implications of hyperekplexia on children's quality of life: a report on two cases.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloClinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated.
Molecular genetics and metabolismOverlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.
Immunological medicineA de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
Brain & developmentA Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay.
CureusSuccessful treatment with refractory myasthenia gravis that developed after allogeneic hematopoietic stem cell transplantation: two case reports.
Frontiers in immunologyAn interesting case of subacute sclerosing panencephalitis presenting with Balint's syndrome and dysautonomia.
Encephalitis (Seoul, Korea)Anti-Ri Associated Paraneoplastic Cervical Dystonia and Laryngospasm in a Patient with Nasopharyngeal Carcinoma.
Noro psikiyatri arsivi2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.
Neurobiology of diseaseIdentification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
BMC medical genomicsMotor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.
Movement disorders clinical practiceThe Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.
Annals of neurosciencesDe Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.
CureusHybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.
Journal of medical case reportsPositive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
International journal of molecular sciencesAutoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
The Lancet. NeurologyA case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.
Parkinsonism & related disordersOutpatient Management of Clinical Comorbidities in Children With Cerebral Palsy in Low- and Middle-Income Countries.
Child: care, health and developmentPartial loss of FITM2 function causes hereditary spastic paraplegia.
medRxiv : the preprint server for health sciencesBiallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Brain communications[Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsCSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients.
Journal of movement disordersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- Enhancing the endocannabinoid system to treat residual disease in relapse-free multiple sclerosis.
- Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
- Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.
- Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41808431mais citado
- CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
- Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
- CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
- Mills' syndrome and myasthenia gravis: a case report.
- The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.
- [Myoadaptive overload syndromes of lower extremities in multiple sclerosis patients].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2821(Orphanet)
- OMIM OMIM:182815(OMIM)
- MONDO:0008442(MONDO)
- GARD:4921(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55345678(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
