Uma forma rara e mais leve de esclerose lateral amiotrófica (ELA). Caracteriza-se por uma evolução da doença que progride lentamente. Os sinais e sintomas incluem fraqueza muscular, atrofia muscular e pequenas contrações musculares visíveis.
Introdução
O que você precisa saber de cara
Uma forma rara e mais leve de esclerose lateral amiotrófica (ELA). Caracteriza-se por uma evolução da doença que progride lentamente. Os sinais e sintomas incluem fraqueza muscular, atrofia muscular e pequenas contrações musculares visíveis.
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 1 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 — Atrofia muscular progressiva
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Historical and clinical analysis of a case of progressive muscular atrophy (1853-1871).
This article presents the historical and clinical analysis of Auguste-Joseph Bellinghen (1818-1872), whose medical course was documented in 1853 and later published in 1871. These records provide a rare longitudinal account of a patient with progressive muscular atrophy (PMA), a condition first described by Aran in 1850 and later redefined within the spectrum of motor neuron diseases by Charcot. The 1853 manuscript depicts a 35-year-old artisan with asymmetrical weakness, fasciculations-described by the patient as a "gelatinous oscillation"-and progressive muscular wasting, while the 1871 report shows him severely disabled, socially marginalized, and institutionalized. Together, these sources illustrate both the slow, relentless course of PMA and the therapeutic practices of the time, including cauterization, sulfur baths, and electrotherapy, all of which proved ineffective. The case also reflects the evolution of nosological frameworks: from Aran's clinical description without neuropathological confirmation to Charcot's integration of anatomical lesions into disease classification, thereby laying the foundations of modern neurology. Beyond clinical insights, the documents highlight the value of hospital archives, medical iconography, and the role of interns in constructing medical memory. Bellinghen's case thus exemplifies how individual trajectories illuminate both the biological and social dimensions of chronic illness in 19th-century France, while providing historiographic depth to the early history of motor neuron disease.
Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation.
Myotonic dystrophy type 1 is a dominantly inherited disorder, affecting musculoskeletal and central nervous systems and mainly characterized by progressive muscular atrophy and multisystemic damages including cardiac, respiratory and sleep dysfunctions. Neuroimaging studies conducted in myotonic dystrophy type 1 patients have documented widespread cerebral alterations encompassing structural, microstructural, functional and metabolic aspects of the brain, while comparatively few studies have investigated the role of iron concentration in the pathophysiology of central nervous system impairment. We report here the use of quantitative susceptibility (χ) mapping to explore iron content of both cortical and subcortical structures in myotonic dystrophy type 1 patients and to assess its possible clinical relevance, combining imaging and clinical data. Thirty-four myotonic dystrophy type 1 participants (20 females, 46.8 ± 12.0 years old) and 35 age- and sex- matched healthy controls (20 females, 50.5 ± 17.3 years old) were included in the study. All participants underwent MRI examinations in the same 3-Tesla scanner. The MRI protocol included 3D morphological T1-weighted magnetization prepared rapid gradient echo and T2*weighted multi-echo gradient echo for quantitative susceptibility mapping reconstruction. Cortical and subcortical structures were automatically segmented, and a volume of interest-based analysis was performed; χ distributions were compared between the two groups and myotonic dystrophy type 1 χ values were correlated with clinical and laboratory data. In the myotonic dystrophy type 1 group, a significant increase of χ was found in almost all cortical gyri, as a non-specific sign of neurodegeneration. Among subcortical structures, χ was significantly higher in myotonic dystrophy type 1 group in both thalamus (ventral and pulvinar nuclei) and brainstem (pons and medulla), compared to healthy controls. Additionally, correlation analysis showed some links between χ in subcortical structures and clinical signs, suggesting greater iron concentration with deterioration of clinical conditions. Thalamic χ values were associated with cardiological parameters and disability scores and, as with brainstem χ, they were also positively correlated with the number of central apnoeas; finally, thalamic and brainstem χ were negatively correlated with the age of onset. This study showed a correlation between autonomic dysfunction related to certain subcortical structures and their χ; higher values of χ correlated with greater functional impairment, suggesting iron accumulation detected by the quantitative susceptibility mapping technique is a possible biomarker of disease progression.
Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by progressive muscle weakness and ultimately death from respiratory failure. Heterogeneity in disease trajectories and outcomes among patients with ALS (pwALS) is influenced by healthcare access, rehabilitation, and palliative care, but real-world data on demographic and clinical characteristics remain scarce in many countries, including Austria. To characterise the demographic, clinical, and genetic landscape of pwALS in Austria. In this retrospective cohort study, we included pwALS diagnosed according to the Gold Coast criteria and treated at two large tertiary referral centres. Demographic, clinical, and genetic data were extracted from the local ALS registries, and survival was determined via linkage with Statistik Austria, censored in December 2023. A total of 341 patients with motor neuron disease were included (44.9% female), of whom 5% were diagnosed with primary lateral sclerosis and 2.9% with progressive muscular atrophy. Among pwALS (n = 314), spinal onset was most common (67.2%), followed by bulbar onset (29.6%) and respiratory onset (2.5%). Median survival from symptom onset was 36.0 months (IQR 20.0-74.0), with age at onset (HR 1.04, 95% CI 1.02-1.05; p < 0.0001), diagnostic delay (HR 0.97, 95% CI 0.96-0.98; p < 0.0001), and PEG tube placement (HR 0.72, 95% CI 0.50-1.00; p = 0.0478) as the only independent predictors of survival. (Likely) pathogenic variants were identified in 5.5% of patients, including two in SOD1 and one each in C9orf72, OPTN, TARDBP, and FUS. This study provides the first comprehensive description of the demographic, clinical, and genetic characteristics of pwALS in Austria, offering valuable real-world insight into disease presentation and genetic diversity.
Imaging spectrum and diagnostic insights in Hirayama disease: A case series.
Hirayama disease is a rare, self-limiting juvenile motor neuron disease predominantly affecting young males, characterized by progressive muscular atrophy and weakness in the distal upper extremities due to dynamic compression of the cervical spinal cord during neck flexion. This case series of 10 patients emphasizes the critical role of dynamic flexion MRI in diagnosis and management. All patients underwent clinical evaluation and detailed MRI imaging including dynamic flexion studies. Anterior displacement of the dural sac was observed in all 10 patients on flexion MRI, with engorgement of the posterior epidural venous plexus in 9 cases. Conservative treatment with cervical collar and physiotherapy was successful in 8 patients, while 2 with progressive disease underwent surgical fusion. Dynamic flexion MRI proved essential for establishing diagnosis and guiding treatment decisions, particularly in cases with normal or equivocal neutral imaging.
[Motor neuron diseases from a radiological perspective : Focus on amyotrophic lateral sclerosis].
Motor neuron diseases (MND) affect the upper and/or lower motor neurons. Radiological diagnostics primarily serve to systematically exclude treatable mimics and support the clinical and electrophysiological diagnosis. The focus is on amyotrophic lateral sclerosis (ALS); supplementary progressive muscular atrophy (PMA, purely lower motor neuron, LMN disease) and spinal muscular atrophy (SMA). Which imaging signs support the diagnosis of ALS, how do electromyography/magnetic resonance imaging (EMG/MRI) fit into the Gold Coast criteria and which other motor neuron diseases are relevant? Overview of clinical criteria (Gold Coast), genetics and typical MRI findings of the brain, spinal cord and musculature. Gold Coast core: progressive motor deterioration, upper motor neuron (UMN) and LMN signs in ≥ 1 region or LMN in ≥ 2 regions and exclusion of alternative causes. susceptibility-weighted imaging (SWI) motor band sign as UMN marker; T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities along the corticospinal tract with low sensitivity, moderate specificity; T1 bright tongue as an indication of chronic denervation in bulbar involvement. EMG: detection of subclinical LMN involvement, sometimes limited in UMN-dominant/bulbar courses. PMA: Pure purely LMN symptoms, often continuum to ALS. SMA: Autosomal autosomal recessive (SMN1 deletion). The diagnosis remains primarily clinical; EMG and MRI are supportive. The radiological priority is the exclusion of mimics. The UMN markers increase diagnostic certainty in the context of clinical/EMG findings but do not replace them. Clear findings facilitate classification according to Gold Coast. The PMA and SMA require careful differential diagnostics; characteristic MRI patterns support progression and treatment planning. HINTERGRUND: Motoneuronerkrankungen (MNE) betreffen das obere (UMN) und/oder untere (LMN) Motoneuron. Die radiologische Diagnostik dient primär dem strukturierten Ausschluss behandelbarer Mimics und der Unterstützung der klinischen und elektrophysiologischen Diagnose. Fokus: amyotrophe Lateralsklerose (ALS); ergänzend progressive Muskelatrophie (PMA) und spinale Muskelatrophie (SMA). Welche bildgebenden Zeichen stützen die ALS-Diagnose, wie ordnen sich Elektromyographie (EMG)/Magnetresonanztomographie (MRT) in die Gold-Coast-Kriterien ein, und welche weiteren MNE sind relevant? Übersicht klinischer Kriterien (Gold-Coast), Genetik und typischer MRT-Befunde von Gehirn, Rückenmark und Muskulatur. Gold-Coast-Kern: progrediente motorische Verschlechterung, UMN- und LMN-Zeichen in ≥ 1 Region oder LMN in ≥ 2 Regionen, Ausschluss alternativer Ursachen. Als Bildgebungsverfahren kommen die MRT („motor-band sign“) in der Suszeptibilitätswichtung (SWI) als UMN-Marker; T2/FLAIR-Hyperintensitäten entlang des kortikospinalen Trakts mit geringer Sensitivität und moderater Spezifität; „T1-Bright-Tongue“ als Hinweis auf chronische Denervation bei bulbärer Beteiligung. EMG: Nachweis subklinischer LMN-Beteiligung, bei UMN-dominanten/bulbären Verläufen teils limitiert. PMA: reine LMN-Symptomatik, häufig Kontinuum zur ALS. SMA: autosomal-rezessiv (SMN1-Deletion). Die Diagnose bleibt primär klinisch; EMG und MRT sind unterstützend. Radiologische Priorität ist der Ausschluss von Mimics. UMN-Marker erhöhen im Kontext von Klinik/EMG die diagnostische Sicherheit, ersetzen diese jedoch nicht. Klare Befundformulierung erleichtern die Zuordnung nach Gold-Coast. PMA und SMA erfordern differenzialdiagnostische Sorgfalt; charakteristische MRT-Muster unterstützen Verlauf und Therapieplanung.
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Historical and clinical analysis of a case of progressive muscular atrophy (1853-1871).
3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant.
🥉 Relato de casoImaging spectrum and diagnostic insights in Hirayama disease: A case series.
A detailed analysis of the effects of body parameters on motor function and fine motor skills measured at one-year intervals in patients with spinal muscular atrophy.
[Motor neuron diseases from a radiological perspective : Focus on amyotrophic lateral sclerosis].
📚 EuropePMC209 artigos no totalmostrando 144
Historical and clinical analysis of a case of progressive muscular atrophy (1853-1871).
European neurology3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyImaging spectrum and diagnostic insights in Hirayama disease: A case series.
Radiology case reports[Motor neuron diseases from a radiological perspective : Focus on amyotrophic lateral sclerosis].
Radiologie (Heidelberg, Germany)Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation.
Brain communicationsRiluzole use and reasons for non-use in people with amyotrophic lateral sclerosis in Aotearoa New Zealand.
The New Zealand medical journalEstablishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis.
Journal of clinical medicineDemographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.
Journal of neurology[Duchenne de Boulogne: Pioneer of Neurology].
Brain and nerve = Shinkei kenkyu no shinpoExpanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.
Acta neuropathologicaCortical Excitability as a Prognostic and Phenotypic Stratification Biomarker in Amyotrophic Lateral Sclerosis.
Annals of neurologyMultiple System Atrophy (Cerebellar Type) With Overlapping Progressive Muscular Atrophy Features and Genetic Erb-B2 Receptor Tyrosine Kinase 4 (ERBB4) Amyotrophic Lateral Sclerosis Variant: A Case Report.
CureusLatest progress and challenges in drug development for degenerative motor neuron diseases.
Neural regeneration research[Genetics of Motor Neuron Diseases and Hereditary Spastic Paraplegia].
Brain and nerve = Shinkei kenkyu no shinpoHIV associated motor neuron disease (MND): A case series with systematic review of literature.
Journal of neurovirologyMotor Neuron Diseases and Central Nervous System Tractopathies: Clinical-Radiologic Correlation and Diagnostic Approach.
Radiographics : a review publication of the Radiological Society of North America, IncBrain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3.
NeuroImage. ClinicalInvestigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Brain communicationsSafety and efficacy of memantine and trazodone versus placebo for motor neuron disease (MND SMART): stage two interim analysis from the first cycle of a phase 3, multiarm, multistage, randomised, adaptive platform trial.
The Lancet. NeurologyComparative analysis of neurofilaments and biomarkers of muscular damage in amyotrophic lateral sclerosis.
Brain communicationsC9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.
Journal of the neurological sciencesGenetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
NeurologyHealth-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationAcceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK.
Lancet (London, England)Upper motor neuron assessment in amyotrophic lateral sclerosis using the patellar tendon reflex and motor-evoked potentials to the lower limbs.
Revue neurologiqueSelf-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.
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European journal of neurologyIdentifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.
CureusOptineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.
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Frontiers in cardiovascular medicineFamilial motor neuron disease: co-occurrence of PLS and ALS (-FTD).
Amyotrophic lateral sclerosis & frontotemporal degenerationSerum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS.
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European journal of neurologyDemographic changes in a large motor neuron disease cohort in Portugal: a 27 year experience.
Amyotrophic lateral sclerosis & frontotemporal degenerationAn SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology[Treatment of Spinal Muscular Atrophy].
Brain and nerve = Shinkei kenkyu no shinpoRegional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis.
Brain : a journal of neurologyERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons.
Cell death discoveryRespiratory phenotypes in amyotrophic lateral sclerosis as determined by respiratory questions on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised and their relation to respiratory tests.
European journal of neurologyRefractory ventricular tachycardia and heart failure due to anti-mitochondrial antibody-positive inflammatory myopathy.
BMC cardiovascular disordersExamining Real-World Adherence to Nusinersen for the Treatment of Spinal Muscular Atrophy Using Two Large US Data Sources.
Advances in therapyM1/precuneus ratio as a surrogate marker of upper motor neuron sign in ALS.
Journal of the neurological sciencesManagement of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure.
Respiratory careStigma experienced by ALS/PMA patients and their caregivers: a mixed-methods study.
Amyotrophic lateral sclerosis & frontotemporal degenerationA randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol.
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Journal of clinical and translational researchClinical Utility of Repetitive Nerve Stimulation Test in Differentiating Multifocal Motor Neuropathy From Progressive Muscular Atrophy.
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Frontiers in neurologyParental and child adjustment to amyotrophic lateral sclerosis: transformations, struggles and needs.
BMC psychologyPhenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.
Frontiers in neurologyHome-monitoring of vital capacity in people with a motor neuron disease.
Journal of neurologyManaging pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report.
Journal of medical case reportsHomozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family.
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Stem cell researchMissense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype.
Frontiers in geneticsAmyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored?
Aging brainA Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
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Revue neurologiqueEvaluation of White Matter Tracts Fractional Anisotropy Using Tract-Based Spatial Statistics and Its correlation with Amyotrophic Lateral Sclerosis Functional Rating Scale Score in Patients with Motor Neuron Disease.
The Indian journal of radiology & imagingGold Coast diagnostic criteria increase sensitivity in amyotrophic lateral sclerosis.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyFrontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging.
Frontiers in neurologyRole of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis.
Journal of neurologyUtility of Transcranial Magnetic Simulation in Studying Upper Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis.
Brain sciencesMuscular atrophy and weakness in the lower extremities in Behçet's disease: A case report and review of literature.
World journal of clinical casesSMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Neurology. GeneticsPrevalence of multimorbidity and its impact on survival in people with motor neuron disease.
European journal of neurologyIntracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons.
Neurobiology of diseaseEstimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia.
Scientific reportsIntellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1.
Journal of neurodevelopmental disordersProgression of cognitive and behavioral disturbances in motor neuron diseases assessed using standard and computer-based batteries.
Amyotrophic lateral sclerosis & frontotemporal degenerationTransaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy.
Journal of clinical and translational hepatologyThe cutaneous silent period in motor neuron disease.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyIntrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center.
NeuropediatricsDissociated leg muscle atrophy in amyotrophic lateral sclerosis/motor neuron disease: the 'split-leg' sign.
Scientific reportsStructural and functional brain connectome in motor neuron diseases: A multicenter MRI study.
Neurology[Eosinophilic Granulomatosis with Polyangiitis with Pulmonary and Cardiac Involvement].
Pneumologie (Stuttgart, Germany)Autophagy and Motor Neuron Diseases.
Advances in experimental medicine and biologyCharacteristics of amyotrophic lateral sclerosis in Lebanon-a chart review.
Amyotrophic lateral sclerosis & frontotemporal degeneration[Calculation of the prevalence of progressive muscular atrophy among adults in China based on urban medical insurance data from 15 provinces].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesA de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degenerationValidation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS.
NeurologyBlended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial.
Amyotrophic lateral sclerosis & frontotemporal degenerationCombined brain and spinal FDG PET allows differentiation between ALS and ALS mimics.
European journal of nuclear medicine and molecular imagingTwo novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Human geneticsPsychological distress in partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: what's the role of care demands and perceived control?
Psychology, health & medicineNasometric Scores in spinal and bulbar muscular atrophy - Effects of palatal lift prosthesis on dysarthria and dysphagia.
Journal of the neurological sciencesCross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease.
NeuroImage. ClinicalFrom the Archives Muscular atrophy, after measles, in three members of a family. By J.A. Ormerod, M.D. Brain (October) 1884; 7 (part XXVII): 334-342; with The peroneal type of progressive muscular atrophy. By Howard H. Tooth, M.A, M.D., M.R.C.P (H.K Lewis, London). 1886; pages 44: with Critical Digests. Recent observations on progressive muscular atrophy. By H. H. Tooth, M.D. Brain (July) 1887; 10 (part XXXVIII): 243-253; with The peroneal form or leg-type of progressive muscular atrophy. By B. Sachs, M.D. (New York). Professor of Mental and Nervous Diseases in the New York Polyclinic, Brain 1890; 12: 447-459.
Brain : a journal of neurologyA 34-Year-Old Female Patient with Hirayama Disease Complicated by Severe Spinal Cord Injury.
World neurosurgeryUser perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study.
BMC psychologyAdvance care planning in progressive neurological diseases: lessons from ALS.
BMC palliative careGenotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation.
Amyotrophic lateral sclerosis & frontotemporal degenerationThe Protective Effect of Aromatase on NSC-34 Cells with Stably Expressed hSOD1-G93A.
NeuroscienceImplementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges.
Journal of neuromuscular diseasesRare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Human molecular geneticsAtypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Revue neurologiqueSuperconditioning TMS unmasks latent voluntary innervation in MND - A case report.
Journal of the neurological sciencesAmyotrophic Lateral Sclerosis and its Mimics/Variants: A Comprehensive Review.
Journal of clinical imaging scienceAmyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy.
Neuropathology : official journal of the Japanese Society of NeuropathologyIntrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients.
Journal of neurologyGlobal, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.
The Lancet. Neurology[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].
Rinsho shinkeigaku = Clinical neurologyThe width of the third ventricle associates with cognition and behaviour in motor neuron disease.
Acta neurologica ScandinavicaBrain-derived neurotrophic factor, insulin like growth factor-1 and inflammatory cytokine responses to continuous and intermittent exercise in patients with type 1 diabetes.
Diabetes research and clinical practice[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesCognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes.
Journal of neurology, neurosurgery, and psychiatryA blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial.
BMC psychologyThe utility of motor unit number estimation methods versus quantitative motor unit potential analysis in diagnosis of ALS.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyDemographics and clinical characteristics of primary lateral sclerosis: case series and a review of literature.
Neurodegenerative disease managementDecremental responses in patients with motor neuron disease.
Brain and behaviorWhat is in the Literature?
Journal of clinical neuromuscular disease[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].
Rinsho shinkeigaku = Clinical neurologyEpigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis.
PloS one[Healing of Amyotrophic Lateral Sclerosis: A Case Report].
Complementary medicine researchUse of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report.
MedicineClinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder.
Journal of the neurological sciencesClinical features of amyotrophic lateral sclerosis and their prognostic value.
Revue neurologiqueAdult-onset spinal muscular atrophy: An update.
Revue neurologiqueEarly diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotrophic lateral sclerosis & frontotemporal degenerationDiagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.
JAMA neurologyClinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).
Cold Spring Harbor perspectives in medicineProspects for bone marrow cell therapy in amyotrophic lateral sclerosis: how far are we from a clinical treatment?
Neural regeneration researchQuantitative analysis of the features of fasciculation potentials and their relation with muscle strength in amyotrophic lateral sclerosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyScreening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report.
Experimental and therapeutic medicineAutophagic down-regulation in motor neurons remarkably prolongs the survival of ALS mice.
NeuropharmacologyCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.
Frontiers in molecular biosciences[Life-threatening hypophosphatemia in 74-year-old woman with recurrent pneumonia and progressive muscular atrophy].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa LekarskiegoAlteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis.
Neuro-degenerative diseasesProspective Validation of 18F-FDG Brain PET Discriminant Analysis Methods in the Diagnosis of Amyotrophic Lateral Sclerosis.
Journal of nuclear medicine : official publication, Society of Nuclear MedicineUnilateral progressive muscular atrophy with fast symptoms progression.
Neurologia i neurochirurgia polskaMicrogravity elicits reproducible alterations in cytoskeletal and metabolic gene and protein expression in space-flown Caenorhabditis elegans.
NPJ microgravityRetinoids and motor neuron disease: Potential role in amyotrophic lateral sclerosis.
Journal of the neurological sciencesCerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.
Annals of neurologyNeuropathology of Amyotrophic Lateral Sclerosis and Its Variants.
Neurologic clinicsProgressive Muscular Atrophy.
Neurologic clinicsCytokine profiles in multifocal motor neuropathy and progressive muscular atrophy.
Journal of neuroimmunologyCSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy.
Neurology(R) neuroimmunology & neuroinflammationNatural history and clinical features of sporadic amyotrophic lateral sclerosis in China.
Journal of neurology, neurosurgery, and psychiatrySporadic lower motor neuron disease with a snake eyes appearance on the cervical anterior horns by MRI.
Clinical neurology and neurosurgeryNeuropsychological investigation in Chinese patients with progressive muscular atrophy.
PloS oneThe diagnostic dilemma of progressive muscular atrophy.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPProgressive muscular atrophy: a patient with confirmatory postmortem findings.
Muscle & nerveAssociation of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control study.
Journal of neurologyAssociações
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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.
- Historical and clinical analysis of a case of progressive muscular atrophy (1853-1871).
- Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation.
- Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.
- Imaging spectrum and diagnostic insights in Hirayama disease: A case series.
- [Motor neuron diseases from a radiological perspective : Focus on amyotrophic lateral sclerosis].
- 3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant.
- A detailed analysis of the effects of body parameters on motor function and fine motor skills measured at one-year intervals in patients with spinal muscular atrophy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:454706(Orphanet)
- MONDO:0018687(MONDO)
- GARD:21891(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q2279175(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
