Raras
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Síndrome de hipertricose cervical-neuropatia periférica
ORPHA:2218CID-10 · G60.0CID-11 · LD27.3OMIM 239840DOENÇA RARA

A neuropatia periférica da hipertricose cervical é uma síndrome rara caracterizada pela associação de hipertricose congênita na região cervical anterior com neuropatia periférica sensitiva e motora. Foi descrita em três membros da mesma família e em um menino não aparentado. As características associadas nos casos familiares incluem anomalias da retina, espinha bífida, cifoescoliose e hálux valgo, enquanto no caso não familiar inclui atraso no desenvolvimento. Um modo de herança autossômico recessivo é sugerido. Não houve mais descrições na literatura desde 1993.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A neuropatia periférica da hipertricose cervical é uma síndrome rara caracterizada pela associação de hipertricose congênita na região cervical anterior com neuropatia periférica sensitiva e motora. Foi descrita em três membros da mesma família e em um menino não aparentado. As características associadas nos casos familiares incluem anomalias da retina, espinha bífida, cifoescoliose e hálux valgo, enquanto no caso não familiar inclui atraso no desenvolvimento. Um modo de herança autossômico recessivo é sugerido. Não houve mais descrições na literatura desde 1993.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
4
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G60.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
2 sintomas
🧠
Neurológico
2 sintomas
🦴
Ossos e articulações
1 sintomas

+ 5 sintomas em outras categorias

Características mais comuns

90%prev.
Malformação de Dandy-Walker
Muito frequente (99-80%)
90%prev.
Anormalidade no EMG
Muito frequente (99-80%)
90%prev.
Hirsutismo generalizado
Muito frequente (99-80%)
55%prev.
Osteomielite
Frequente (79-30%)
55%prev.
Úlcera cutânea
Frequente (79-30%)
55%prev.
Periostite
Frequente (79-30%)
10sintomas
Muito frequente (3)
Frequente (3)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Malformação de Dandy-WalkerDandy-Walker malformation
Muito frequente (99-80%)90%
Anormalidade no EMGEMG abnormality
Muito frequente (99-80%)90%
Hirsutismo generalizadoGeneralized hirsutism
Muito frequente (99-80%)90%
OsteomieliteOsteomyelitis
Frequente (79-30%)55%
Úlcera cutâneaSkin ulcer
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202551 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de hipertricose cervical-neuropatia periférica

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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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.

Case reports in neurology2026

Tapia's syndrome is a rare neurological condition defined by concurrent unilateral paralysis of the vagus (cranial nerve X) and hypoglossal (cranial nerve XII) nerves. It is most commonly reported as an iatrogenic complication of procedures involving airway manipulation, such as orotracheal intubation. This report describes a unique case of Tapia's syndrome with a temporal association to the initiation of noninvasive continuous positive airway pressure (CPAP) therapy. A 66-year-old female presented with a four-day history of acute-onset dysphonia, dysphagia, and right-sided tongue deviation. Her symptoms began shortly after initiating CPAP therapy with a full-face mask for newly diagnosed obstructive sleep apnea. She had also recently received multiple vaccinations. Clinical examination revealed right-sided vagus and hypoglossal nerve palsies, and laryngoscopy confirmed right vocal cord paralysis. Extensive diagnostic evaluation, including magnetic resonance imaging and angiography of the brain and neck, effectively excluded central nervous system pathologies such as stroke, demyelinating disease, or mass lesions and diagnosis of Tapia's syndrome was made. The patient was managed by discontinuing CPAP and administering a course of oral corticosteroids, alongside speech and swallowing therapy. She experienced a near-complete resolution of her symptoms over 6 weeks. This case suggests that Tapia's syndrome can be a rare complication of noninvasive airway support. A multifactorial etiology involving mechanical nerve compression from the CPAP apparatus, potentially compounded by an immune-mediated nerve sensitization from recent vaccinations, should be considered in the differential diagnosis of lower cranial neuropathies.

#2

Impact of Cervical Radiculopathy on the Risk of Cubital Tunnel Syndrome Following Distal Humerus Fracture: A Retrospective Cohort Analysis of 165 Million Patients.

Hand (New York, N.Y.)2026 Mar 18

Cubital tunnel syndrome (CuTS) is a common peripheral neuropathy often exacerbated by trauma or anatomical disruption. Cervical radiculopathy has been proposed as a proximal risk factor via the double crush mechanism, but its role in post-traumatic CuTS following distal humerus fracture (DHF) remains underexplored. A retrospective cohort study was conducted using the PearlDiver database (165 million patients). Patients with DHF were stratified by the presence of pre-existing cervical radiculopathy. Incidence rates of cubital tunnel syndrome diagnosis (CuTSD) and cubital tunnel release surgery (CuTRS) were compared using bivariate and multivariate logistic regression, adjusting for demographics, comorbidities, fracture type, and management approach. Patients with cervical radiculopathy had a significantly higher incidence of CuTSD after DHF (9.6% vs 5.14%; odds ratio, 1.95, 95% confidence interval, 1.71-2.23) and modestly elevated CuTRS rates (3.75% vs 3.18%). Cervical radiculopathy remained an independent predictor of both outcomes after adjusting for confounders. Predictors such as rheumatoid arthritis and prior nerve injury were significant, whereas fibromyalgia, diabetic neuropathy, and systemic lupus erythematosus were not. The predictive effect was stronger for diagnosis than for surgical intervention. Cervical radiculopathy is an independent risk factor for developing CuTSD following DHF and may influence symptom perception more than surgical decision-making. These findings support the double crush hypothesis and highlight the need for heightened vigilance in managing DHF in patients with cervical radiculopathy. Prospective studies are warranted to validate these associations and refine treatment algorithms.

#3

Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.

Diagnostics (Basel, Switzerland)2026 Feb 26

A 79-year-old former marathoner, with memory impairment since age 78, developed increasing stumbling and progressively worsening waddling gait. Three months after gait disturbance onset, she noted mild dysphagia. With declining walking distance and endurance, she presented to our hospital six months after onset, exhibiting frontal signs, Parkinsonism with marked trunk rigidity, and hyperreflexia of the jaw and limbs. L-dopa challenge tests showed no improvement. At seven months post-onset, she had difficulty rising. By nine months, she relied on a walker, and speech disturbance appeared. At 10-11 months, both dysarthria and dysphagia rapidly worsened, she became bed-ridden, and upper limb weakness developed (though she could still use chopsticks). Neurological examination at one year revealed severe dysarthria/dysphagia, four extremity fasciculations and muscle weakness (grade 2 in upper limbs, grade 1 in lower limbs), trunk-dominant rigidity, and hyperreflexia in the jaw and limbs. Brain MRI, specifically susceptibility-weighted imaging, revealed motor band signs. Cerebrospinal fluid study revealed albuminocytological dissociation. Needle electromyography revealed acute denervation and chronic reinnervation in the cranial nerve, cervical, and lumbar areas, which was suggestive of motor neuron disease (MND). Serum anti-GQ1b antibodies were detected. Immunotherapy was followed by mild improvement, which might suggest a reversible component, although definitive pathological overlap remains unconfirmed. This case highlights a diagnostic challenge where an acute immune-mediated neuropathy could potentially be superimposed on a chronic neurodegenerative process. Anti-GQ1b antibodies should be interpreted with caution, as they may reflect either a true clinicopathological overlap with Guillain-Barré syndrome or a secondary phenomenon (epiphenomenon) related to the primary neurodegenerative process.

#4

Ultrasound imaging of the spinal accessory nerve in the neck.

Ultrasound (Leeds, England)2026 Mar 10

The spinal accessory nerve is the external terminal division of the 11th cranial nerve which passes postero-inferiorly in the neck, innervating the sternocleidomastoid and trapezius muscles. The spinal accessory nerve is often in the field of view of neck ultrasound imaging, however, can be overlooked and underappreciated during sonographic neck imaging and ultrasound-guided lymph node biopsies. A scoping review of the literature was conducted to assess current knowledge regarding sonographic imaging of the spinal accessory nerve. The authors' sonographic experience and practical sonographic workshops informed the development of a sonographic technique to image this nerve. Iatrogenic injury is a common cause of spinal accessory neuropathy, particularly from needle biopsies of neck lymph nodes and surgery. Ultrasound imaging can effectively demonstrate the extracranial component of the spinal accessory nerve. An appreciation of the anatomy and path of the spinal accessory nerve is important to ensure appropriate sonographic identification of the spinal accessory nerve and ensure it is not in the needle path during ultrasound-guided neck lymph node biopsies. In addition, ultrasound imaging can be used to diagnose spinal accessory nerve injury, pathology and subsequent denervation of the sternocleidomastoid and trapezius muscles which can affect neck and shoulder pain and mobility, negatively impacting daily activities. Awareness of the spinal accessory nerve anatomy and imaging appearances is required when sonographically imaging the neck to identify the spinal accessory nerve, ensuring it is not in the needle path during ultrasound-guided neck biopsies and identifying any potential injury or pathological involvement.

#5

Misdiagnosis of superior sulcus tumours: a scoping review.

Journal of thoracic disease2026 Feb 28

Superior sulcus tumours (SSTs) are a rare but serious non-small cell lung cancer that requires aggressive multi-modal intervention. Existing literature suggests patient outcomes are adversely affected by diagnosis delay, often from misdiagnosis as a musculoskeletal condition. As such, the aims of this review were to identify the key clinical features of SSTs documented in the literature and differentiate them from commonly misdiagnosed musculoskeletal pathologies. In accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for scoping reviews (PRISMA-ScR), a systematic search of electronic databases was conducted for studies of SST patients with descriptions of their signs and symptoms. These findings along with information on any length of diagnostic delay or misdiagnosis were extracted for analysis. The final review included a sample of 1,328 patients across 31 studies. A total of 111 patients had a misdiagnosis resulting in diagnostic delay. The most common presentation across all SSTs was shoulder pain (60.0%), followed by a history of smoking (27.0%), and arm pain (25.6%). Diagnostic delay was most frequently due to radiographic error by primary contact physicians. For patients who received a misdiagnosis, the most common clinical findings were signs and symptoms of upper limb neuropathy (55.7%), shoulder pain (53.2%) and chest pain (27.9%). Within this subgroup, SSTs were most frequently misdiagnosed as cervical spine radiculopathy, cervical spine osteoarthritis, or glenohumeral osteoarthritis. Additionally, within the misdiagnosis subgroup, key features of SSTs such as Horner's syndrome and history of smoking were less prevalent compared to the larger group. Explicit testing and differentiation between shoulder and cervical spine pathology are required when examining patients with atraumatic shoulder and/or arm pain to rule out SSTs. Specifically, targeted testing for cervical spine radiculopathy and glenohumeral osteoarthritis can help guide appropriate imaging in the initial stages of assessment. When requested, apical lung imaging should be scrutinized to prevent physicians from missing radiographic signs of SSTs that may lead to diagnostic delay.

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2026

Impact of Cervical Radiculopathy on the Risk of Cubital Tunnel Syndrome Following Distal Humerus Fracture: A Retrospective Cohort Analysis of 165 Million Patients.

Hand (New York, N.Y.)
2026

Motor Neuron Disease with Guillain-Barré Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.

Diagnostics (Basel, Switzerland)
2026

Ultrasound imaging of the spinal accessory nerve in the neck.

Ultrasound (Leeds, England)
2026

Misdiagnosis of superior sulcus tumours: a scoping review.

Journal of thoracic disease
2026

The development of inner ear gene therapy for DFNB9: From bench to bedside.

Hearing research
2026

Bannwarth Syndrome in a Patient With Early-Stage Breast Cancer: An Atypical Manifestation of Lyme Neuroborreliosis.

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Incidence of Median and Ulnar Neuropathy Following Nonupper Extremity Surgery.

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2026

Traumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.

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2026

Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study.

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Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.

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2026

Precise and efficient DNA base editing restores normal hearing in adult DFNB9 mouse model.

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Optic neuropathies induced by immune checkpoint inhibitors: A case series and systematic review of the literature.

European journal of cancer (Oxford, England : 1990)
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Unilateral and Reversible Hypoglossal Nerve Palsy in Infectious Mononucleosis Syndromes: Two Rare Cases from Our Clinic.

Viruses
2026

Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.

Case reports in neurology
2026

Patient- and disease-specific factors associated with atrophy of the intrinsic muscles of the ulnar nerve in cubital tunnel syndrome.

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When Pain Relief Backfires: Ramsay Hunt Syndrome after Intra-articular Steroid Injection - A Rare Complication with 6-month Follow-up.

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Optimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi-Center Retrospective Study.

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Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

Molecular genetics &amp; genomic medicine
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Hearing loss and cochlear implantation in Chudley McCullough syndrome: A case series.

Cochlear implants international
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Segmental Zoster Paresis With Comorbid Carpal Tunnel Syndrome.

Cureus
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Thyroid cancer with internal jugular vein tumor embolism and skull base invasion causing polyneuropathy.

Auris, nasus, larynx
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THE FIRST ATTEMPT IN ARMENIA OF EASYGO-TYPE ENDOSCOPIC SURGERY FOR LUMBAR SPINAL CANAL STENOSIS.

Georgian medical news
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Is RAGE Expression in Flexor Tendon Synovium Associated With Carpal Tunnel Syndrome in Patients With Diabetes?

Clinical orthopaedics and related research
2025

Symptom Improvement in a Patient With Chronic Pronator Teres Syndrome Treated With Ultrasound-Guided Hydrodissection and Manual Therapy: A Case Report.

Cureus
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Cervical Spine Pathology Versus Upper Extremity Compressive Peripheral Neuropathy: Which Is It?

Instructional course lectures
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Idiopathic First Bite Syndrome Associated With Diabetic Autonomic Neuropathy.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
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The Association of Long Thoracic Nerve Variants With Medial Scapular Winging in Thoracic Outlet Syndrome: A Clinical and Anatomical Study.

The Journal of hand surgery
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Sonographic anatomy and imaging of the great auricular nerve.

Surgical and radiologic anatomy : SRA
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A Real-World Pharmacovigilance Study of Fruquintinib Based on the FDA Adverse Event Reporting System (FAERS) Database.

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A Case of Vasculitic Neuropathy Presenting With Progressive Sensory-Motor Limb Involvement, Posterior Reversible Encephalopathy Syndrome, and Systemic Symptoms in a 70-Year-Old Woman.

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Validation of the human disharmony loop: Pectoralis minor tenotomy significantly reduces pain and improves function in historically challenging patients who meet reproducible and explicit diagnostic criteria.

PloS one
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A Case of Miller-Fisher Overlap Syndrome With Positive Anti-GM4 Antibody and Atypical Symptoms.

Immunity, inflammation and disease
2025

Double crush syndrome at cervical preganglionic level and thoracic outlet region, presenting as ulnar neuropathy at the elbow.

American journal of physical medicine &amp; rehabilitation
2025

A Rare Case of Miller Fisher Syndrome Following Legionella Pneumonia: Expanding the Spectrum of Post-infectious Neurological Complications.

Cureus
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Prospective Study of Long-Term Outcomes and the Patient Experience With Superior Laryngeal Nerve Block for Chronic Cough.

The Laryngoscope
2025

Case Report: Subacute combined degeneration of the spinal cord mimic accompanying adaptor protein-3B2-IgG.

Frontiers in immunology
2025

Neurogenic pectoralis minor syndrome in the differential diagnosis of neck pain: A case series with diagnostic ultrasound-guided pectoralis minor muscle block.

Medicine
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Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.

Human genetics
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Secondary musculoskeletal disability and rehabilitation aspects in adults with thalidomide embryopathy: A narrative review.

Intractable &amp; rare diseases research
2025

A Case of Progressive Flaccid Quadriparesis in a Young Woman: Diagnostic Pitfalls and the Role of Backward Reasoning.

Journal of clinical neuromuscular disease
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Antibody-positive pharyngeal-cervical-brachial variant superimposed on a paraparetic variant of Guillain-Barré syndrome: A case report.

Medicine
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Signal mining and risk analysis of tisotumab vedotin adverse events based on the FAERS database.

Scientific reports
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Spinal cord reversible cerebral vasoconstriction syndrome.

Proceedings (Baylor University. Medical Center)
2026

Ultrasound assessment of peripheral nerve size in Guillain-Barré syndrome: A systematic review and Meta-Analysis.

Neuroradiology
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Evaluation of Superior Laryngeal Nerve Block for Management of Laryngeal Sensory Neuropathy.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
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Harlequin syndrome: using clinical features and autonomic testing to unmask the disorder.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
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Efficacy of measuring lysophosphatidylcholine levels in human cerebrospinal fluid to differentiate myelopathy from cauda equina syndrome.

Scientific reports
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Neurogenic Thoracic Outlet Syndrome: A Current Literature Review.

The American surgeon
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Surgical Management of Double Crush Syndrome: Outcomes of Cervical Decompression With and Without Peripheral Nerve Release.

Journal of hand surgery global online
2025

High Cervical Intrathecal Targeted Drug Delivery for Refractory Neuropathic Craniofacial Pain.

Neuromodulation : journal of the International Neuromodulation Society
2025

Early-Onset Hearing Loss in Leber's Hereditary Optic Neuropathy: A Case Report.

Ear, nose, &amp; throat journal
2024

CLINICALLY SILENT SOMATOTROPH ADENOMA PRESENTING WITH ACUTE CARPAL TUNNEL SYNDROME: A CASE WITH 14-YEAR FOLLOW-UP AND REVIEW OF THE LITERATURE.

Acta endocrinologica (Bucharest, Romania : 2005)
2025

Isolated Pectoralis Major and Tricep Atrophy Secondary to Neuralgic Amyotrophy.

Cureus
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Decompression Surgery of Orbital Compartment Syndrome-Analysis of Surgery Procedures and Visual Function.

Journal of clinical medicine
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Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.

The journal of international advanced otology
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Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

Molecular medicine (Cambridge, Mass.)
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Global Trends and Insights Into the Neurological Manifestations of Sjögren's Syndrome: A Bibliometric Review.

Cureus
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GQ1b-Positive Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome Presenting With Pseudoathetosis and Pseudodystonia in a 47-Year-Old Filipino Female: A Case Report.

Cureus
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Successful treatment of intractable neuralgia in patients with typical and atypical Ramsay Hunt syndrome by transcutaneous facial nerve stimulation: a case series study.

Frontiers in neuroscience
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Albuminocytologic Dissociation and Intravenous Immunoglobulin Therapy in Parsonage-Turner Syndrome With Bilateral Involvement: A Case Report.

Cureus
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Diagnostic accuracy of neurodynamic tests in upper-limb entrapment neuropathies: A systematic review and meta-analysis.

Musculoskeletal science &amp; practice
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A case of orbital tip syndrome caused by sphenoid sinus mucoceles.

International journal of surgery case reports
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The Human Disharmony Loop: A Case Series Proposing the Unique Role of the Pectoralis Minor in a Unifying Syndrome of Chronic Pain, Neuropathy, and Weakness.

Journal of clinical medicine
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Retrograde cervical insertion of spinal cord stimulator in persistent spinal pain syndrome type 2 in patient with fusion from sacrum to T10.

Pain practice : the official journal of World Institute of Pain
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[Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
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Auditory Neuropathy Caused by a Structural Variation in the OTOF Gene, Identified Using Oxford Nanopore Adaptive Sampling.

Genes
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Brachial Plexitis during Maintenance Atezolizumab after Palliative Radiotherapy for Cervical Spine Metastasis in Lung Cancer.

Internal medicine (Tokyo, Japan)
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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.

Biomedicines
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Is There an Association between Bell Palsy in Pediatric Patients and COVID-19?

International archives of otorhinolaryngology
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The overlap of diabetic and inflammatory neuropathies: Epidemiology, possible mechanisms, and treatment implications.

Clinical neurology and neurosurgery
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An Overview of Zika Virus and Zika Virus Induced Neuropathies.

International journal of molecular sciences
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Neuromyelitis Optica Spectrum Disorder With Unilateral Retrobulbar Neuritis: A Case Report.

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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.

Orphanet journal of rare diseases
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MultiSpace Deep Fascial Infection in the Head and Neck Patient Complicated with Guillain-Barre Syndrome: Case Report with a Literature Review.

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The Efficacy of Combined Decompression of Carpal and Cubital Tunnel in the Setting of Cervical Spine Stenosis: A Retrospective Analysis.

Cureus
2024

[Postoperative outcomes after simultaneous surgery for cervical radiculopathy combined with distal peripheral nerve compression].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

Understanding risk factors for revision surgery after cubital tunnel release: Analysis of patient selection, surgeon, and clinical factors.

Journal of hand and microsurgery
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Evaluating massage therapy for radiation-induced fibrosis in rats: preliminary findings and palpation results.

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Outcomes and complications of hip arthroscopy for femoroacetabular impingement syndrome: A narrative review.

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Robotic-assisted thoracoscopic surgery first rib resection-surgical technique.

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Orbital Apex Syndrome Secondary to Retained Foreign Body: A Case Report.

Cureus
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Characteristics of Severe Asthma Clinic Patients With Eosinophilic Granulomatosis With Polyangiitis.

The journal of allergy and clinical immunology. In practice
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Novel Diagnosis and Treatment for Neurogenic Thoracic Outlet Syndrome.

Cureus
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Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.

Auris, nasus, larynx
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Stiff person spectrum disorder: overview with emphasis on head and neck comorbidities.

Oral surgery, oral medicine, oral pathology and oral radiology
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Single center experience with hourglass-like constriction neuropathy of suprascapular nerve.

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Surgical management of arterial compression of the anterior visual pathway - a systematic review.

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Hearing loss secondary to variants in the OTOF gene.

International journal of pediatric otorhinolaryngology
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Journal of the peripheral nervous system : JPNS
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Molsidomine provides neuroprotection against vincristine-induced peripheral neurotoxicity through soluble guanylyl cyclase activation.

Scientific reports
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Odontogenic Sinusitis Presenting With Infraorbital Numbness and Progressive Maxillary Sinus Atelectasis.

Cureus
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Mechanisms of neurodynamic treatments (MONET): a protocol for a mechanistic, randomised, single-blind controlled trial in patients with carpal tunnel syndrome.

BMC musculoskeletal disorders
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Challenges and Advances in the Diagnosis and Management of Neurogenic Thoracic Outlet Syndrome: A Comprehensive Review.

The journal of hand surgery Asian-Pacific volume
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Effect of exercise on cluneal nerve entrapment neuropathy: a case report.

Journal of medical case reports
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Argyria and Neuropsychiatric Disorders: When not only the Matter is Gray. A Literature Review and a Case Report.

Current medicinal chemistry
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Kinked Again! From Congenital Brachial Plexus Palsy to Adult Neurogenic Thoracic Outlet Syndrome: A Case Report.

American journal of physical medicine &amp; rehabilitation
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Neurophysiological and Ultrasound Correlations in Guillain Barré Syndrome and CIDP-Case Series.

Journal of personalized medicine
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Nitrous Oxide as an Emerging Cause of Subacute Combined Degeneration and Polyneuropathy: A Two-Case Report.

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Childhood fever and hearing loss associated with CAPOS syndrome.

Auris, nasus, larynx
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Acta neurochirurgica
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Recurrent Ipsilateral C5 Nerve Palsy Associated With Hereditary Neuropathy With Liability to Pressure Palsy.

Cureus
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Bilateral vestibulopathy as the initial presentation of CANVAS.

Journal of the neurological sciences
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Sudden Onset Auditory Neuropathy Spectrum Disorder: A Rare Case Report of Brown Vialetto Van Laere Syndrome.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Orphanet journal of rare diseases
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Retropharyngeal abscess due to Fusobacterium necrophorum complicated by progressive internal carotid artery stenosis and multiple cranial nerve palsies.

Head &amp; neck
2024

Bruns Garland Syndrome as the first presentation of type 2 diabetes: two case reports and a practical approach to diagnosis.

Journal of medical case reports
2024

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

Cellular and molecular life sciences : CMLS
2023

When Sight and Cancer Collide: A Rare Case of Paraneoplastic Bilateral Optic Neuritis.

Cureus
2024

From Ramsay Hunt to Parotid Cancer: A Case Report.

ORL-head and neck nursing : official journal of the Society of Otorhinolaryngology and Head-Neck Nurses
2023

Ramsay Hunt syndrome and concurrent varicella-zoster virus meningitis in Denmark: A nationwide cohort study.

Journal of medical virology
2023

Audiological Profiling and Importance of Vestibular Rehabilitation for a Patient with Ramsay Hunt Syndrome: Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

Co-occurrence of symptoms after radiochemotherapy in locally advanced cervix cancer patients: a cluster analysis.

Acta oncologica (Stockholm, Sweden)
2023

Emerging biomarkers to predict clinical outcomes in Guillain-Barré syndrome.

Expert review of neurotherapeutics
2023

Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome.

Brain sciences
2024

Ramen noodle neuropathy: an atypical case of partial paralysis from malnutrition.

The American journal of emergency medicine
2023

Characteristics of carpal tunnel syndrome in patients with cervical radiculopathy: A cross-sectional study.

Health science reports
2023

Subacute Brachial Plexopathy due to Intraneural Epithelioid Hemangioma: A Case Report.

The Neurohospitalist
2023

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Neurology. Clinical practice
2023

Sarcoidosis-Associated Sensory Ganglionopathy and Harlequin Syndrome: A Case Report.

Medicina (Kaunas, Lithuania)
2024

Indications and Short-Term Outcomes for In-Office Therapeutic Superior Laryngeal Nerve Block.

The Annals of otology, rhinology, and laryngology
2023

Platelet Releasate Injection as a Novel Treatment for Ulnar Neuritis at the Elbow: A Case Report.

Cureus
2023

Adult-onset botulism in a Japanese woman with prolonged spore excretion.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2023

A young man with Guillain-Barré syndrome, with a stroke-like presentation and physical findings suggestive of cervical myelopathy.

Qatar medical journal
2023

Ulnar Nerve Compression at the Elbow Secondary to Intramuscular Lipoma of the Flexor Carpi Ulnaris: A Case Report.

JBJS case connector
2023

Increased 18 F-FDG uptake in denervated muscles in a case of Parsonage-Turner syndrome.

BMC neurology
2023

Guillain-Barré Syndrome Presenting as Painful Weakness and Edema of the Legs: A Case Report.

Cureus
2023

Fahr's syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder.

Frontiers in neuroscience
2023

Novel biallelic variants in the PLEC gene are associated with severe hearing loss.

Hearing research
2023

Overstrain on the longitudinal band of the cruciform ligament during flexion in the setting of sandwich deformity at the craniovertebral junction: a finite element analysis.

The spine journal : official journal of the North American Spine Society
2023

Characterization of a chronic cough in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

Laryngoscope investigative otolaryngology
2023

A Pilot Study In to the Effects of Cervical Manual Therapy Plus Conventional Physical Therapy on Clinical Outcomes and Electrodiagnostic Findings in People With Carpal Tunnel Syndrome.

International journal of therapeutic massage &amp; bodywork
2023

Pathophysiological mechanisms and therapeutic approaches in obstructive sleep apnea syndrome.

Signal transduction and targeted therapy
2023

A Case of Idiopathic First Bite Syndrome, Possibly Linked to Type I Diabetes Mellitus.

Cureus
2023

Eosinophilic granulomatosis with polyangiitis developed after dupilumab administration in patients with eosinophilic chronic rhinosinusitis and asthma: a case report.

BMC pulmonary medicine
2023

A Rare Case of Vocal Cord Paralysis in the Setting of Ramsay Hunt Syndrome.

Cureus
2023

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Nature communications
2024

Compressive lesions of the head and neck: Common and uncommon must-know entities.

The neuroradiology journal
2023

Chronic cough in post-COVID syndrome: Laryngeal electromyography findings in vagus nerve neuropathy.

PloS one
2023

Cubital tunnel syndrome of the ulnar nerve caused by an epineural ganglion cyst: a case report and review of the literature.

Journal of medical case reports
2023

Predicting CTS Diagnosis and Prognosis Based on Machine Learning Techniques.

Diagnostics (Basel, Switzerland)
2022

Comparison of Otoacoustic Emission (OAE) and Brainstem Evoked Response Audiometry (BERA) in High Risk Infants and Children under 5 Years of Age for Hearing Assessment in Western India: A Modification in Screening Protocol.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

The association between acute brucellosis with a Guillain-Barré syndrome-like presentation: a case report.

Journal of medical case reports
2023

Electrodiagnostic test results in people with a working diagnosis of cubital tunnel syndrome.

Journal of orthopaedics
2023

Guillain-Barré syndrome associated with COVID-19: A systematic review.

Brain, behavior, &amp; immunity - health
2022

Heterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients.

Cureus
2022

Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease.

Cureus
2023

Surgical Neuromodulation of Traumatic Brachial Plexus Injuries a Systematic Review and Meta-analysis.

Medical archives (Sarajevo, Bosnia and Herzegovina)
2023

Carpal tunnel syndrome: updated evidence and new questions.

The Lancet. Neurology
2022

Establishment of Reference Values for Early Auditory Preverbal Skills of Children with Cochlear Implants.

Trends in hearing
2022

Early Lyme neuroborreliosis manifesting as brachial plexopathy and meningitis in Northwestern Ontario, Canada: A case report.

Medicine
2022

Guillain-barré syndrome without limb weakness: A rare variant with acute bulbar palsy.

Journal of family medicine and primary care
2022

Positive Outcomes of Early Task-Specific Training and Action Observation Mirror Therapy Following Infarction of Hand Knob Area: A Case Report.

Cureus
2024

The Incidence of Double Crush Syndrome in Surgically Treated Patients.

Global spine journal
2022

Relationships between the Clinical Test Results and Neurophysiological Findings in Patients with Thoracic Outlet Syndrome.

Bioengineering (Basel, Switzerland)
2022

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.

JAMA network open
2022

A case report of unilateral cervical lymphadenopathy and multiple cranial neuropathies following mRNA-COVID-19 vaccination.

BMC neurology
2022

Photobiomodulation therapy in management of cancer therapy-induced side effects: WALT position paper 2022.

Frontiers in oncology
2022

Postpartum reversible cerebral vasoconstriction with cortical subarachnoid hemorrhage and posterior reversible encephalopathy syndrome concomitant with vertebral artery dissection diagnosed by MRI MSDE method: A case report and review of literature.

Clinical case reports
2022

Internal carotid artery dissection following self-manipulation: A case report.

SAGE open medical case reports
2022

Pathophysiology of Nociception and Rare Genetic Disorders with Increased Pain Threshold or Pain Insensitivity.

Pathophysiology : the official journal of the International Society for Pathophysiology
2023

Palato-Pharyngo-Laryngeal Rhythmic Myoclonus in Neuro-Behcet Syndrome: A Case Report.

The Annals of otology, rhinology, and laryngology
2022

Varicella zoster-associated progressive lower cranial and upper cervical polyneuropathy: a case report.

Journal of medical case reports
2022

Acute Bulbar Palsy-Plus Variant of Guillain-Barré Syndrome in a 3-Year-Old Girl.

Child neurology open
2024

Phenotypic Characterization of Laryngospasm: The Utility of Laryngeal Neurophysiological Studies.

Journal of voice : official journal of the Voice Foundation
2022

Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum.

Qatar medical journal
2022

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Clinical genetics
2022

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Neurogenetics
2022

Lemierre syndrome associated mycotic cavernous sinus thrombosis and carotid aneurysm after COVID-19.

American journal of ophthalmology case reports
2022

Pectoralis minor syndrome - review of pathoanatomy, diagnosis, and management of the primary cause of neurogenic thoracic outlet syndrome.

JSES reviews, reports, and techniques
2022

Nodopathies in the Early Diagnosis of Axonal Forms of Guillain-Barré Syndrome.

Frontiers in neurology
2023

Parsonage-Turner Syndrome mimicking musculoskeletal shoulder pain: A case report during the SARS-CoV-2 pandemic era.

Journal of telemedicine and telecare
2024

Rarest of the rare: a case of pharyngeal-cervical-brachial variant of Guillain-Barré syndrome presenting with a demyelinating neuropathy.

The International journal of neuroscience
2022

Histopathological evidence that diethylene glycol produces kidney and nervous system damage in rats.

Neurotoxicology
2022

Acute nitrous oxide-induced neuropathy mimicking Guillain-Barré syndrome.

Journal of the peripheral nervous system : JPNS
2022

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.

Science advances
2022

Craniocervical Artery Dissections: A Concise Review for Clinicians.

Mayo Clinic proceedings
2022

Post-acute sensory neurological sequelae in patients with severe acute respiratory syndrome coronavirus 2 infection: the COVID-PN observational cohort study.

Pain
2022

Pharmacogenomics of cisplatin-induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy.

Cancer medicine
2022

Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease.

Nephron
2022

CLINICAL AND NEUROPHYSIOLOGICAL PARALLELS OF THE BRACHIAL PLEXOPATHY IN THE STRUCTURE OF NEUROGENIC THORACIC OUTLET SYNDROME.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2021

Case Report: Initial Evidence of Safety and Efficacy of High Definition-Transcranial Direct Current Stimulation in a Patient With Neuropathic Pain and Implanted Spinal Cord Stimulator.

Frontiers in pain research (Lausanne, Switzerland)
2022

Managing Osteopetrosis in the Complex Polytrauma Orthopedic Patient.

Cureus
2022

A Rare Cause of Forearm Pain: Two Cases with Pronator Teres Syndrome.

Pain medicine case reports
2022

TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.

Annals of clinical and translational neurology
2023

Myelin oligodendrocyte glycoprotein antibody-associated optic neuritis: an update.

Arquivos brasileiros de oftalmologia
2022

Scalp dysesthesia: a neuropathic phenomenon.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Eagle syndrome presenting as anterior ischaemic neuropathy: a multidisciplinary approach.

BMJ case reports
2021

Sequelae and Comorbidities of COVID-19 Manifestations on the Cardiac and the Vascular Systems.

Frontiers in physiology
2021

A Case of Sjögren's Syndrome Associated With Trigeminal Neuropathy and Enhancement of the Mandibular Nerve at the Foramen Ovale: A Case Report and a Review of the Differential Diagnosis and Mechanisms of the Disease.

Cureus
2023

Optic neuropathy after COVID-19 vaccination: a report of two cases.

The International journal of neuroscience
2021

A Correlation between Upper Extremity Compressive Neuropathy and Nerve Compression Headache.

Plastic and reconstructive surgery
2021

Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome.

Cureus
2022

Cervical Spine, Upper Extremity Neuropathies, and Overuse Injuries in Cyclists.

Physical medicine and rehabilitation clinics of North America
2022

Association of Economic Well-Being With Comorbid Conditions in Patients Undergoing Carpal Tunnel Release.

The Journal of hand surgery
2021

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.

Frontiers in cell and developmental biology
2021

Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome in a Patient of COVID-19 Infection.

Cureus

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Tapia's Syndrome following Noninvasive Continuous Positive Airway Pressure Therapy: A Case Report.
    Case reports in neurology· 2026· PMID 41709878mais citado
  2. Impact of Cervical Radiculopathy on the Risk of Cubital Tunnel Syndrome Following Distal Humerus Fracture: A Retrospective Cohort Analysis of 165 Million Patients.
    Hand (New York, N.Y.)· 2026· PMID 41851974mais citado
  3. Motor Neuron Disease with Guillain-Barr&#xe9; Syndrome? Motor Band Sign with Anti-GQ1b Antibodies.
    Diagnostics (Basel, Switzerland)· 2026· PMID 41827952mais citado
  4. Ultrasound imaging of the spinal accessory nerve in the neck.
    Ultrasound (Leeds, England)· 2026· PMID 41822791mais citado
  5. Misdiagnosis of superior sulcus tumours: a scoping review.
    Journal of thoracic disease· 2026· PMID 41816482mais citado
  6. Diffuse neurofibroma with hypertrichosis in a toddler.
    Pediatr Dermatol· 2024· PMID 38459636recente
  7. Case of pigmented neurofibroma with hypertrichosis with no association to neurofibromatosis.
    J Dermatol· 2009· PMID 19785708recente
  8. Glomeruloid hemangioma.
    Pathol Int· 2008· PMID 18477219recente
  9. Glomeruloid haemangioma with cerebriform morphology in a patient with POEMS syndrome.
    Clin Exp Dermatol· 2006· PMID 17040261recente
  10. Pigmented (melanotic) neurofibroma: a clinicopathologic and immunohistochemical analysis of 19 lesions from 17 patients.
    Am J Surg Pathol· 2000· PMID 10716146recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2218(Orphanet)
  2. OMIM OMIM:239840(OMIM)
  3. MONDO:0009405(MONDO)
  4. GARD:1226(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55781964(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

Síndrome de hipertricose cervical-neuropatia periférica
Compêndio · Raras BR

Síndrome de hipertricose cervical-neuropatia periférica

ORPHA:2218 · MONDO:0009405
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
Herança
Autosomal recessive
CID-10
G60.0 · Neuropatia hereditária motora e sensorial
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1855902
Repurposing
2 candidatos
duloxetinenorepinephrine reuptake inhibitor|serotonin–norepinephrine reuptake inhibitor (SNRI)
levocarnitine-propionatecarnitine palmitoyltransferase inhibitor
Wikidata
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