A Neuropatia Hereditária com Propensão a Paralisias por Pressão (HNPP) é uma condição genética que afeta os nervos periféricos do corpo. Ela se manifesta por episódios repetidos de fraqueza ou dormência que atingem um único nervo de cada vez, geralmente após uma pressão leve ou atividades físicas simples.
Introdução
O que você precisa saber de cara
A Neuropatia Hereditária com Propensão a Paralisias por Pressão (HNPP) é uma condição genética que afeta os nervos periféricos do corpo. Ela se manifesta por episódios repetidos de fraqueza ou dormência que atingem um único nervo de cada vez, geralmente após uma pressão leve ou atividades físicas simples.
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
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane
Peroxisome membrane
Variantes genéticas (ClinVar)
292 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 — Neuropatia hereditária com suscetibilidade a paralisia por pressão
Selecione um estado ou use sua localização para ver resultados.
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
Behavioral Thermoceptive Responses and Morphologic Correlates in Mouse Models of CMT1A, HNPP, and Aging.
Thermoceptive dysfunction is a frequent but understudied feature of peripheral neuropathies and aging. Patients often report abnormal heat perception, yet the underlying sensory mechanisms remain unclear. This study evaluated thermoceptive behavior and corresponding structural changes in mouse models of inherited dysmyelinating neuropathy and natural aging to identify shared and divergent mechanisms. Thermal preference was assessed using a user-independent gradient apparatus spanning physiological to noxious temperatures, with automated quantification of time in zone, distance traveled, and velocity. Nocifensive responses were evaluated by hot plate latency. Intraepidermal nerve fiber density (IENFD) was measured in paw pads, and TRPV1-positive dorsal root ganglion (DRG) neurons were analyzed by immunofluorescence and confocal imaging. Thermal gradient testing revealed preserved temperature preference in CMT1A and HNPP mice but significantly altered behavior in aged animals, which spent less time in warmer zones. Hot plate testing showed prolonged times to nocifensive behavior in aged and CMT1A mice, whereas HNPP mice exhibited variable responses. IENFD was markedly reduced in aged mice but preserved in CMT1A and HNPP. DRG analysis revealed smaller soma diameters and reduced proportions of TRPV1-positive Aδ neurons in aged mice, while CMT1A animals maintained normal morphology. Aging produces thermoceptive deficits through axonal degeneration and selective Aδ-fiber vulnerability, whereas CMT1A mice display conduction-related impairment due to dysmyelination. Both models reproduce key human sensory phenotypes and provide translational platforms for studying small-fiber dysfunction and therapeutic interventions in peripheral neuropathies.
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
The Peripheral Myelin Protein 22 (PMP22) gene plays a central role in peripheral nerve myelination, and dosage alterations (deletion, duplication, or point mutation) are established causes of hereditary neuropathies such as Charcot-Marie-Tooth disease type 1 A (CMT1A), CMT1E, and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). However, its potential contribution to atypical developmental motor phenotypes such as persistent toe-walking (PTW) has not been systematically explored. To characterize the phenotypic spectrum of pediatric PMP22 variant carriers presenting with PTW and to compare their clinical features with those of established PMP22-related neuropathies. This retrospective study analyzed 22 children with PMP22 variants (pathogenic, likely pathogenic, or of uncertain significance) identified through a targeted 49-gene next-generation sequencing panel. Detailed phenotypic data were collected across five clinical domains-genetic, developmental, gait and musculoskeletal, neurological, and associated comorbidities-and compared to standardized phenotype frequencies for CMT1A, CMT1E, and HNPP derived from Orphanet and the Human Phenotype Ontology (HPO) databases. Persistent tip-toe gait was universal, accompanied by pes cavus, lumbar hyperlordosis, tremor, and hyporeflexia. Speech and language difficulties were reported in 45 % of cases, and a family history of toe-walking in 40 %. Additional muscle symptoms and neurological findings were reported, developmental disorders were also reported. Children carrying PMP22 variants with PTW exhibit a distinct phenotype differing from classic demyelinating neuropathies. The findings suggest that a subset of idiopathic toe-walking cases may represent a developmental manifestation within the PMP22-related disease spectrum, highlighting the value of genetic testing in reevaluating gait disorders of uncertain etiology.
Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Charcot-Marie-Tooth Disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) are the most common inherited peripheral neuropathies and arise from copy number variation of the Peripheral Myelin Protein 22 (PMP22) gene. While secondary axon degeneration has been proposed as the primary driver of disability, our prior work demonstrated pronounced neuromuscular impairment in CMT1A model mice in the absence of overt axonal loss, prompting investigation into primary myelin dysfunction. Here, we reveal that altered PMP22 dosage profoundly disrupts molecular architecture at critical myelin domains, Schmidt-Lanterman incisures (SLIs) and Nodes of Ranvier. Using high-resolution confocal imaging of teased peripheral nerve fibers from CMT1A and HNPP model mice, we identified widespread disorganization of adherens junctions, mislocalization of Connexin29 and aberrant distribution of nodal ion channels, with several defects more severe in CMT1A, consistent with disease burden. Notably, nodal widening and abnormal spreading of Kv1.2 and Caspr along internodes indicate compromised axo-glial compartmentalization essential for saltatory conduction. Together, these findings support a model in which PMP22 functions as a structural organizer of myelin, coordinating adherens junction patterning and nodal subdomain integrity. Dysregulation of this function is predicted to compromise Schwann-cell architecture, metabolic support and axonal excitability. Our findings support a paradigm shift in which molecular destabilization of myelin, rather than secondary axonal degeneration alone, contributes to disease progression in CMT1A and HNPP. This work also identifies junctional complexes as potential actionable molecular targets and establishes a mechanistic framework applicable to a broad spectrum of inherited dysmyelinating and acquired demyelinating neuropathies.
Multiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating from Axonal Polyneuropathies.
Differentiating demyelinating from axonal polyneuropathies is essential for accurate diagnosis and treatment. We hypothesized that multiparametric quantitative MRI (qMRI) of peripheral nerves can differentiate demyelination from axonal loss. This retrospective study leveraged genetically defined demyelinating and axonal polyneuropathies to test this concept. Multiparametric qMRI data of proximal (sciatic) and distal (tibial) nerves were acquired on 3T MRI, including magnetization transfer ratio (MTR), MT saturation index (MTsat), T2 *, T1, proton density (PD), fractional anisotropy (FA), mean/axial/radial diffusivities (MD, AD, RD), and fascicular volume (fVol). Data were analyzed from patients with Charcot-Marie-Tooth type 1 (CMT1, de-/dys-myelinating, n=19), CMT2 (axonal, n=12), hereditary neuropathy with liability to pressure palsies (HNPP, a cohort who often has intermediate changes between the two classifications, n=25), and health controls (HC, n=25). A composite qMRI score, as CMT Imaging Score (CMTIS), was developed to predict disease severity using the CMT Neuropathy Score version-2 (CMTNSv2) as a clinical reference. Receiver operating characteristic (ROC) analyses assessed diagnostic performance. CMT1 showed significantly increased fVol versus HCs, while CMT2 demonstrated reduced T2 *. Both CMT1 and CMT2 exhibited reduced FA, MTsat, and AD, along with elevated T1 and RD, with larger abnormalities in CMT1. ROC analyses demonstrated strong discrimination of CMT1 and CMT2 (AUCs: 0.95 and 0.85 for sciatic; 0.89 and 0.73 for tibial nerves). CMTIS correlated strongly with CMTNSv2 (r=0.67 sciatic; r=0.72 tibial; r=0.79 combined). Multiparametric qMRI identifies distinct imaging signatures of demyelinating versus axonal hereditary polyneuropathies. The CMTIS shows strong potential as a biomarker for disease monitoring.
Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
The aim of this study was to investigate whether the considerable phenotypic variation in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) is due to additional pathogenic coding variants in severely affected patients, by screening a panel of neuropathy-related genes. In this cross-sectional study, the extremes of the spectrum of 742 patients with genetically confirmed CMT1A and HNPP were selected, based on disability as assessed using the Overall Neuropathy Limitation Scale (ONLS). The ONLS data of 183 patients with CMT1A and 102 with HNPP showed a Gaussian distribution. A next-generation sequencing panel containing 177 neuropathy-related genes was tested in a selected group of 20 patients with mild CMT1A, 24 with severe CMT1A, 25 with mild HNPP, and 25 with severe HNPP. One additional autosomal dominant pathogenic variant in the MFN2 gene was identified in a severe CMT1A case. Heterozygous pathogenic variants in autosomal recessive neuropathy-related genes were found in 2 patients with severe CMT1A and in 2 with mild HNPP. In our study, additional pathogenic coding variants in neuropathy-related genes did not contribute to variation in disease severity in most patients with CMT1A and HNPP. In cases with confirmed PMP22 copy-number alterations, further genetic screening for pathogenic variants in CMT-related genes is warranted only in severe cases.
Publicações recentes
Behavioral Thermoceptive Responses and Morphologic Correlates in Mouse Models of CMT1A, HNPP, and Aging.
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.
Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Multiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating from Axonal Polyneuropathies.
📚 EuropePMC231 artigos no totalmostrando 120
Behavioral Thermoceptive Responses and Morphologic Correlates in Mouse Models of CMT1A, HNPP, and Aging.
Journal of the peripheral nervous system : JPNSA comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
Global medical geneticsPersistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.
Global medical geneticsAberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
GliaMultiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating from Axonal Polyneuropathies.
medRxiv : the preprint server for health sciencesPMP22-Related Neuropathies: A Systematic Review.
GenesSearch for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
Neurology. GeneticsHereditary Neuropathy with Liability to Pressure Palsies Unmasked by Polatuzumab Vedotin-containing Chemotherapy.
Internal medicine (Tokyo, Japan)Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.
CureusHereditary Neuropathy with Liability to Pressure Palsies Mimicking a Chronic Inflammatory Demyelinating Polyneuropathy Variant: A Case Report Highlighting Diagnostic Challenges.
Internal medicine (Tokyo, Japan)Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment.
Frontiers in geneticsHereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report.
MedicineVideo head impulse test findings in patients with peripheral myelin protein 22 related neuropathies.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyCopy Number Variations in a Case with Intractable Epilepsy, Intellectual Disability, and Hereditary Neuropathy with Liability to Pressure Palsies Having a 17p12 Deletion.
Internal medicine (Tokyo, Japan)Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Journal of neurologyUltrasonography of Recurrent Brachial Plexopathies in Hereditary Neuropathy With Liability to Pressure Palsies.
Journal of clinical neuromuscular diseasePrenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.
Prenatal diagnosisAn interesting cause of wrist drop: The crow position in yoga and hereditary neuropathy with liability to pressure palsies.
Turkish journal of physical medicine and rehabilitationPregnancy and Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report and Narrative Review of the Literature.
CureusAnesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review.
Healthcare (Basel, Switzerland)Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain : a journal of neurologyTargeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.
EMBO molecular medicineHereditary neuropathy associated with liability to pressure palsies: a 24-year experience with carpal and cubital tunnel surgery.
The Journal of hand surgery, European volumeHereditary Neuropathy With Liability to Pressure Palsy Detected During the Use of Recreational Drugs.
The NeurohospitalistEfficacy of Spinal Cord Stimulation Using Differential Target Multiplexed Stimulation for Intractable Pain of Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report.
NMC case report journalMyelin protein zero-related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies.
Muscle & nerveNoncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
Journal of the peripheral nervous system : JPNSMonomelic Multifocal Neuropathy: An Unrecognized Electrophysiological Feature of Hereditary Neuropathy with Liability to Pressure Palsies in Childhood.
Neurology IndiaSubcortical Demyelinating Lesions Associated With Hereditary Neuropathy With Liability to Pressure Palsies.
The NeurohospitalistMultiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy.
Nagoya journal of medical scienceHeterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients.
CureusHereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report.
MedicineUtility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.
Muscle & nervePeripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
GenesHereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
Italian journal of pediatricsDosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMDFacial Paresthesia, a Rare Manifestation of Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report.
Frontiers in neurologyNew Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics[An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training].
Rinsho shinkeigaku = Clinical neurologyAsymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyVagus nerve pressure palsy in hereditary neuropathy with liability to pressure palsies confirmed by neurosonography.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyNew evidence for secondary axonal degeneration in demyelinating neuropathies.
Neuroscience lettersMarfanoid Habitus in an Adolescent With Hereditary Neuropathy With Liability to Pressure Palsies: A Novel Association?
Journal of clinical neuromuscular diseaseThe prevalence of hereditary neuromuscular disorders in Northern Norway.
Brain and behaviorUltrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution.
Journal of clinical neurology (Seoul, Korea)Fatigue in patients with hereditary neuropathy with liability to pressure palsies.
Annals of clinical and translational neurologyPaternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.
Molecular genetics & genomic medicineYield of the PMP22 deletion analysis in patients with compression neuropathies.
Journal of neurologyA New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Journal of neuromuscular diseasesDiagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Clinical geneticsA novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Journal of the peripheral nervous system : JPNSPmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Human molecular geneticsQuality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.
Acta neurologica BelgicaLength-dependent MRI of hereditary neuropathy with liability to pressure palsies.
Annals of clinical and translational neurologyComparison of clinical and electrophysiological features of patients with hereditary neuropathy with liability to pressure palsies with or without pain.
Journal of the neurological sciencesA Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects.
NeuropediatricsPain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP).
Scandinavian journal of painSpinal anaesthesia for elective caesarean section in a patient with hereditary neuropathy with liability to pressure palsies.
International journal of obstetric anesthesiaPrevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.
BMJ openWrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy.
Neuromuscular disorders : NMDHereditary neuropathy with liability to pressure palsies.
Journal of neurologyAnesthetic Considerations of Hereditary Neuropathy With Liability to Pressure Palsies in an Obstetric Patient: A Case Report.
A&A practiceMuscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies.
Brain and behaviorRodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP.
Journal of the neurological sciencesGenetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).
Journal of the peripheral nervous system : JPNSA Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training.
Irish medical journalHereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report.
JBJS case connectorA Review of Copy Number Variants in Inherited Neuropathies.
Current genomicsHereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy.
Revue neurologiquePeripheral neuropathy in diabetes: it's not always what it looks like.
Diabetic medicine : a journal of the British Diabetic AssociationPainless motor radiculopathy of the cervical spine: clinical and radiological characteristics and long-term outcomes after operative decompression.
Journal of neurosurgery. SpineFrequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.
Orphanet journal of rare diseasesA dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies.
Journal of neurochemistryMechanosensitivity of Embryonic Neurites Promotes Their Directional Extension and Schwann Cells Progenitors Migration.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacologyClinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaDavidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies.
Muscle & nerveNano-scale Biophysical and Structural Investigations on Intact and Neuropathic Nerve Fibers by Simultaneous Combination of Atomic Force and Confocal Microscopy.
Frontiers in molecular neuroscienceMolecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
NeuroepidemiologyDifferent nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.
Muscle & nerveCarpal tunnel syndrome in inherited neuropathies: A retrospective survey.
Muscle & nerve[A case of hereditary neuropathy with liability to pressure palsies due to push-up exercise].
Rinsho shinkeigaku = Clinical neurologyAcute Demyelinating Polyneuropathy as Presentation of Hereditary Neuropathy With Liability to Pressure Palsies in a Patient Who Exercised Regularly in the Army.
Journal of clinical neuromuscular diseaseA case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis.
MedicineElectrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies.
Journal of clinical neuromuscular diseasePhenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
European journal of neurology[Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieA population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.
NeurologyHereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.
Journal of clinical neuromuscular diseaseNiacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.
EMBO molecular medicineHereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil.
Neurology internationalAfferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies.
PloS oneTuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP.
PLoS geneticsAn Unusual Postoperative Neuropathy: Foot Drop Contralateral to the Lateral Decubitus Position.
A & A case reportsNonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Human geneticsLaryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).
Neuromuscular disorders : NMDCompression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging.
American journal of physical medicine & rehabilitationHereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.
Neuromuscular disorders : NMDAkt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS.
The Journal of neuroscience : the official journal of the Society for NeuroscienceFibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability.
Orthopaedics & traumatology, surgery & research : OTSRA Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationHNPP: not only entrapment sites. Ultrasound digital nerve abnormalities in a guitar player.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyClinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion.
Arquivos de neuro-psiquiatria[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaLow back pain with radicular symptoms as a presentation of hereditary neuropathy with liability to pressure palsies: the diagnostic challenge of an atypical presentation.
Muscle & nerve[Phenotypes of Charcot-Marie-Tooth Syndrome and Differential Diagnosis Focused in Inflammatory Neuropathies].
Brain and nerve = Shinkei kenkyu no shinpoPhenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.
American journal of orthopedics (Belle Mead, N.J.)Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.
Clinical geneticsHereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.
Case reports in genetics[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital].
Revista de neurologiaChronic Inflammatory Demyelinating Polyneuropathy Manifesting as Neuropathy With Liability to Pressure Palsies: A Case Report.
Journal of clinical neuromuscular diseaseThe modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.
Journal of neurologyDTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).
MedicineAnalysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.
Clinical chemistry and laboratory medicineComplex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome.
Case reports in orthopedicsRapid improvement of hereditary neuropathy with liability to pressure palsies following cubital tunnel release.
Muscle & nerveMutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
Journal of the peripheral nervous system : JPNSCoexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.
Muscle & nerveMolecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic models.
Experimental neurologyThe modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
Ideggyogyaszati szemle[Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Neuropatia hereditária com suscetibilidade a paralisia por pressão.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Neuropatia hereditária com suscetibilidade a paralisia por pressão
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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.
- Behavioral Thermoceptive Responses and Morphologic Correlates in Mouse Models of CMT1A, HNPP, and Aging.
- A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
- Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
- Multiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating from Axonal Polyneuropathies.
- Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
- Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:640(Orphanet)
- OMIM OMIM:162500(OMIM)
- MONDO:0008087(MONDO)
- Esclerose Lateral Amiotrofica(PCDT · Ministério da Saúde)
- GARD:5221(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1609737(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
