A Aplasia dos Músculos Extensores dos Dedos com Polineuropatia é uma doença rara e hereditária, que afeta os nervos que controlam os movimentos e a sensibilidade. Ela se manifesta por: polegares e dedos que permanecem dobrados; perda de sensibilidade na mão; e exames dos nervos (eletrofisiológicos) nos braços e pernas que mostram problemas em múltiplos nervos. Uma cirurgia nas mãos revela que os músculos responsáveis por esticar os dedos (os extensores) e seus tendões estão ausentes ou são pouco desenvolvidos. Não há mais descrições dessa condição na literatura médica desde 1986.
Introdução
O que você precisa saber de cara
A Aplasia dos Músculos Extensores dos Dedos com Polineuropatia é uma doença rara e hereditária, que afeta os nervos que controlam os movimentos e a sensibilidade. Ela se manifesta por: polegares e dedos que permanecem dobrados; perda de sensibilidade na mão; e exames dos nervos (eletrofisiológicos) nos braços e pernas que mostram problemas em múltiplos nervos. Uma cirurgia nas mãos revela que os músculos responsáveis por esticar os dedos (os extensores) e seus tendões estão ausentes ou são pouco desenvolvidos. Não há mais descrições dessa condição na literatura médica desde 1986.
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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 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 — Aplasia do músculo extensor digital-polineuropatia
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📚 EuropePMCmostrando 199
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PloS oneMuscle function and architecture in children with juvenile idiopathic arthritis.
Acta paediatrica (Oslo, Norway : 1992)Effect of Limb Position on Measurements of the Quadriceps Muscle Length/Femoral Length Ratio in Normal Beagle Dogs.
Veterinary and comparative orthopaedics and traumatology : V.C.O.TA Cyber-Physical System for Near Real-Time Monitoring of At-Home Orthopedic Rehabilitation and Mobile-Based Provider-Patient Communications to Improve Adherence: Development and Formative Evaluation.
JMIR human factorsPerformance among different types of myocontrolled tasks is not related.
Human movement scienceReconstruction of a C7-T1 brachial plexus lower root injury by transferring multiple nerves and a free gracilis muscle: Case report.
MicrosurgeryTo Hop or Not to Hop? The Answer Is in the Bird Trees.
Systematic biologySoft tissue injury patterns in posteromedial rotatory instability with dislocation compared with posteromedial dislocation of the elbow joint.
Journal of shoulder and elbow surgeryFluctuations in local and widespread mechanical sensitivity throughout the migraine cycle: a prospective longitudinal study.
The journal of headache and painIntraspinal Iliac Venous Stent Migration with Lumbar Nerve Root Compression.
World neurosurgeryDevelopment of a Knee Joint CT-FEM Model in Load Response of the Stance Phase During Walking Using Muscle Exertion, Motion Analysis, and Ground Reaction Force Data.
Medicina (Kaunas, Lithuania)Weak psoas and spine extensors potentially predispose to hip fracture.
Hip international : the journal of clinical and experimental research on hip pathology and therapyBilateral Proximal Forearm Transplantation: Case Report at 7 Years.
TransplantationAnalysis of the effect of overusing thumbs on smartphone games.
The Journal of international medical researchCorrelation between isometric strength in five muscle groups and inclination angles of spine.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyMeasurement of peripheral muscle oxygen saturation in conscious healthy horses using a near-infrared spectroscopy device.
Veterinary anaesthesia and analgesiaGross anatomical adaptations of the craniolateral forearm muscles in Tamandua mexicana (Xenarthra: Myrmecophagidae): development of accessory muscles and rete mirabile for its arterial supply.
HeliyonReturn to Sports and Clinical Outcomes After Arthroscopic Anatomic Posterior Cruciate Ligament Reconstruction With Remnant Preservation.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationInfluence of passive elements on prediction of intradiscal pressure and muscle activation in lumbar musculoskeletal models.
Computer methods and programs in biomedicineExtraordinary grip strength and specialized myology in the hyper-derived hand of Perodicticus potto?
Journal of anatomyExpanding traditional tendon-based techniques with nerve transfers for the restoration of upper limb function in tetraplegia: a prospective case series.
Lancet (London, England)Ontogenetic allometry and architectural properties of the paravertebral and hindlimb musculature in Eastern cottontail rabbits (Sylvilagus floridanus): functional implications for developmental changes in locomotor performance.
Journal of anatomyA rare bilateral variation on the dorsum of the hand: extensor digitorum brevis manus and extensor medii proprius.
Anatomy & cell biologyThe relationship between peripheral muscle strength and respiratory function and respiratory muscle strength in athletes.
Journal of exercise rehabilitationDifferent strength declines in leg primary movers versus stabilizers across age-Implications for the risk of falls in older adults?
PloS oneStatistical shape modelling versus linear scaling: Effects on predictions of hip joint centre location and muscle moment arms in people with hip osteoarthritis.
Journal of biomechanicsDominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Neuromuscular disorders : NMDCross sectional imaging of truncal and quadriceps muscles relates to different functional outcomes in cancer.
Clinical nutrition (Edinburgh, Scotland)Lower Extremity Muscle Strength and Force Variability in Persons With Parkinson Disease.
Journal of neurologic physical therapy : JNPTFirst dorsal compartment musculotendinous avulsion accompanied by close radial styloid fracture: Case report.
International journal of surgery case reportsMatching Participants for Triceps Surae Muscle Strength and Tendon Stiffness Does Not Eliminate Age-Related Differences in Mechanical Power Output During Jumping.
Frontiers in physiologyRelationship of hip and ankle range of motion, trunk muscle endurance with knee valgus and dynamic balance in males.
Physical therapy in sport : official journal of the Association of Chartered Physiotherapists in Sports MedicineIs forward head posture relevant to cervical muscles performance and neck pain? A case-control study.
Brazilian journal of physical therapyContralateral C7 to C7 nerve root transfer in reconstruction for treatment of total brachial plexus palsy: anatomical basis and preliminary clinical results.
Journal of neurosurgery. SpineEffect of Subject-Specific Vertebral Position and Head and Neck Size on Calculation of Spine Musculoskeletal Moments.
Annals of biomedical engineeringAssociation between knee extensor strength and pulmonary function in the female elderly.
Journal of physical therapy scienceThe Contributions of Fiber Atrophy, Fiber Loss, In Situ Specific Force, and Voluntary Activation to Weakness in Sarcopenia.
The journals of gerontology. Series A, Biological sciences and medical sciencesGlucose Metabolism as a Pre-clinical Biomarker for the Golden Retriever Model of Duchenne Muscular Dystrophy.
Molecular imaging and biology[Dropped head syndrome as first manifestation of primary hyperparathyroid myopathy].
Rinsho shinkeigaku = Clinical neurologyPredicting Diaphyseal Cortical Bone Status Using Measures of Muscle Force Capacity.
Medicine and science in sports and exerciseScaling of Primate Forearm Muscle Architecture as It Relates to Locomotion and Posture.
Anatomical record (Hoboken, N.J. : 2007)The strength of weight-bearing bones is similar in amenorrheic and eumenorrheic elite long-distance runners.
Scandinavian journal of medicine & science in sportsButterfly Sprint Swimming Technique, Analysis of Somatic and Spatial-Temporal Coordination Variables.
Journal of human kineticsMigration of a Kirschner wire into the spinal cord: A case report and literature review.
The journal of spinal cord medicineThe Relationship Between Digit Independence and Digital Sesamoids in Humans and a Proposal of a New Digital Sesamoid Evolutionary Hypothesis.
Anatomical record (Hoboken, N.J. : 2007)[Corrective procedures and indications for cavovarus foot deformities in children and adolescents].
Operative Orthopadie und TraumatologieRadiographic measurement of the quadriceps angle in dogs.
PloS oneAn Investigation of a Novel Tendon Transfer Surgery for High Median-Ulnar Nerve Palsy in a Chicken Model.
Journal of investigative surgery : the official journal of the Academy of Surgical ResearchImportance of Consistent Datasets in Musculoskeletal Modelling: A Study of the Hand and Wrist.
Annals of biomedical engineeringEvaluating the Ergonomics of Flexible Ureteroscopy.
Journal of endourologyFat Graft and Bone Wax Interposition Provides Better Functional Outcomes and Lower Reossification Rates Than Extensor Digitorum Brevis After Calcaneonavicular Coalition Resection.
Journal of pediatric orthopedicsNeglected bilateral congenital dislocation of the patella.
Eklem hastaliklari ve cerrahisi = Joint diseases & related surgeryNon-Targeted Metabolomics Analysis of Golden Retriever Muscular Dystrophy-Affected Muscles Reveals Alterations in Arginine and Proline Metabolism, and Elevations in Glutamic and Oleic Acid In Vivo.
MetabolitesAssessment of the Cross-Sectional Areas of the Psoas Major and Multifidus Muscles in Patients With Adult Spinal Deformity: A Case-Control Study.
Clinical spine surgeryMuscle architectural properties in the common marmoset (Callithrix jacchus).
Primates; journal of primatologyInsulin, not glutamine dipeptide, reduces lipases expression and prevents fat wasting and weight loss in Walker 256 tumor-bearing rats.
European journal of pharmacologyCurvature reduces bending strains in the quokka femur.
PeerJThe influence of Task-Related Training combined with Transcutaneous Electrical Nerve Stimulation on paretic upper limb muscle activation in patients with chronic stroke.
NeuroRehabilitationC8 cross transfer for the treatment of caudal brachial plexus avulsion in three dogs.
Veterinary surgery : VSA Rare Case of Anomalous Origin of First Lumbrical from the Tendon of Flexor Digitorum Superficialis to Index Finger.
Journal of clinical and diagnostic research : JCDREffects of short-term Nordic walking training on sarcopenia-related parameters in women with low bone mass: a preliminary study.
Clinical interventions in agingEffects of lymphatic drainage and local cryo exposition regeneration after high-intensive exercises.
Muscles, ligaments and tendons journalFatty Degeneration of the Paraspinal Muscle in Patients With Degenerative Lumbar Kyphosis: A New Evaluation Method of Quantitative Digital Analysis Using MRI and CT Scan.
Clinical spine surgeryReconstruction of long digital extensor tendon by cranial tibial muscle fascia graft in a dog.
Veterinary research forum : an international quarterly journalResistance Training Alters the Proportion of Skeletal Muscle Fibers but Not Brain Neurotrophic Factors in Young Adult Rats.
Journal of strength and conditioning researchPostoperative Physical Therapy Management of Tendon Transfer for Digital/Wrist Extension Due to Multifocal Motor Neuropathy.
The Journal of orthopaedic and sports physical therapyVariant lumbrical musculature of the left hand: Clinico-anatomic elucidation.
Morphologie : bulletin de l'Association des anatomistesThe fatty degeneration of lumbar paraspinal muscles on computed tomography scan according to age and disc level.
The spine journal : official journal of the North American Spine SocietyDifferential Adhesion Selection for Enrichment of Tendon-Derived Progenitor Cells During In Vitro Culture.
Tissue engineering. Part C, MethodsKinesio Taping does not improve the symptoms or function of older people with knee osteoarthritis: a randomised trial.
Journal of physiotherapyFascicles and the interfascicular matrix show adaptation for fatigue resistance in energy storing tendons.
Acta biomaterialiaInferring muscle functional roles of the ostrich pelvic limb during walking and running using computer optimization.
Journal of the Royal Society, InterfaceVariability in the Patellar Attachment of the Medial Patellofemoral Ligament.
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy AssociationMusculoskeletal Geometry, Muscle Architecture and Functional Specialisations of the Mouse Hindlimb.
PloS oneDistribution of proteins within different compartments of tendon varies according to tendon type.
Journal of anatomyThe Quadriceps Vector is Most Parallel to the Spherical Axis With Minimal Difference for Gender or Ethnicity.
The Journal of arthroplastyDecreased neck muscle strength in patients with the loss of cervical lordosis.
Clinical biomechanics (Bristol, Avon)Simplifying a wing: diversity and functional consequences of digital joint reduction in bat wings.
Journal of anatomyComplex Regional Pain Syndrome-Type 1 Presenting as deQuervain's Stenosing Tenosynovitis.
Pain physicianCore muscle characteristics during walking of patients with multiple sclerosis.
Journal of rehabilitation research and developmentAssociações
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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.
- The balanced finger: biomechanics of intrinsic and extrinsic systems and principles of reconstruction.
- Hoffmann's two-toed sloth II: Muscle architectural properties in the thoracic limb of Choloepus (Pilosa: Xenarthra).
- Effects of Tablet Tilt Angle on Hand and Wrist Muscle Activation During Digital Handwriting: A Cross-Sectional Electromyographic Study in University Students.
- Anatomopathological and molecular characterization of avian reovirus in broilers condemned due to arthritis in Southern Brazil.
- PathViT Model for Automated Disease Classification from Skeletal Muscle Histopathology.
- New Functional Interpretation of the Musculus Popliteus and the Musculus Extensor Digitorum Longus for the Stifle Joint According to Their Origin Coordinates in Dogs.
- A novel surgical technique for cranial cruciate ligament repair in dogs using autologous lateral digital extensor muscle tendon graft combined with platelet-rich plasma: A preliminary experimental study.
- Arthroscopic approach to the subextensorius recess of the lateral femorotibial joint of the foal.
- Computed tomographic anatomy of the equine stifle joint.
- Radiographic assessment of the progression of osteoarthrosis in the contralateral stifle joint of dogs with a ruptured cranial cruciate ligament.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2926(Orphanet)
- OMIM OMIM:207740(OMIM)
- MONDO:0008809(MONDO)
- GARD:2589(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781661(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