A Esclerose Lateral Primária (ELP) é uma doença neurológica que afeta os neurônios motores (as células nervosas responsáveis pelos movimentos do corpo). Ela não tem causa conhecida e não é hereditária. A doença é marcada por um problema lento e progressivo nos neurônios motores superiores, causando rigidez excessiva nos músculos (espasticidade), fraqueza leve ao fazer movimentos voluntários, reflexos exagerados (hiperreflexia) e dificuldade para falar.
Introdução
O que você precisa saber de cara
A Esclerose Lateral Primária (ELP) é uma doença neurológica que afeta os neurônios motores (as células nervosas responsáveis pelos movimentos do corpo). Ela não tem causa conhecida e não é hereditária. A doença é marcada por um problema lento e progressivo nos neurônios motores superiores, causando rigidez excessiva nos músculos (espasticidade), fraqueza leve ao fazer movimentos voluntários, reflexos exagerados (hiperreflexia) e dificuldade para falar.
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
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, PubMed:9635427). SPG7 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease ex
Mitochondrion inner membrane
Spastic paraplegia 7, autosomal recessive
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)
Amyotrophic lateral sclerosis 2
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMe
Endoplasmic reticulum membrane
Spastic paraplegia 18B, autosomal recessive
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18B is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures.
Variantes genéticas (ClinVar)
733 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 32 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Esclerose lateral primária
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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
Ensaios em destaque
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Accessing multidisciplinary care poses challenges for people living with amyotrophic lateral sclerosis (ALS) due to mobility issues. As ALS care rarely requires hospital-based technology, most care is available through home visits. The Daniella Lipper ALS House Call Program (HCP) at Massachusetts General Hospital (MGH), launched in 2017 in collaboration with Compassionate Care ALS, has pioneered home-based ALS care in Eastern Massachusetts. A retrospective chart review of ALS and primary lateral sclerosis (PLS) patients enrolled in the HCP at MGH was conducted. Data on demographics, visit details, and procedures performed during home visits were collected from electronic health records for patients seen from January 2024 to December 2024. In 2024, the ALS HCP conducted 959 visits for 142 patients (average age: 68 years, range: 36-93; 47.9% female). Of these patients, 137 (96.5%) were diagnosed with ALS and 5 (3.5%) with PLS. Notably, 61 patients (43%) received care exclusively at home. Key interventions included 44 gastrostomy tube exchanges and 59 respiratory assessments, both of which significantly reduced hospital visits. The average distance traveled by the care team was 30.32 miles per visit. The Daniella Lipper ALS HCP at MGH brings ALS expertise into the patient's home, minimizing travel burdens and ensuring continuity of care. The program illustrates the feasibility and impact of home-based ALS care, suggesting potential for broader implementation across the nation. Development will focus on expanding services, such as tracheostomy changes in the homes, and on creating sustainable models for similar initiatives.
TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.
We report a 58-year-old woman with a novel splice-site variant in the TANK-binding kinase 1 (TBK1:c.993-2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and prosopagnosia represented the earliest manifestation of rtvFTD. Molecular analysis revealed reduced levels of correctly spliced TBK1 transcripts, consistent with haploinsufficiency. Given the shared involvement of TDP-43 pathology in both PLS and rtvFTD, this case indicates TBK1 dysfunction as a fundamental genetic factor underlying the coexistence of these phenotypes, underscoring the clinical value of early neuroimaging and genetic evaluation.
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.
The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort.
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Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment.
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Drug discovery todayImaging data reveal divergent longitudinal trajectories in PLS, ALS and poliomyelitis survivors: Group-level and single-subject traits.
Data in briefPhenotypic categorisation of individual subjects with motor neuron disease based on radiological disease burden patterns: A machine-learning approach.
Journal of the neurological sciencesUpper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons.
Gene therapyCSF Heavy Neurofilament May Discriminate and Predict Motor Neuron Diseases with Upper Motor Neuron Involvement.
BiomedicinesHalf Wine Glass Appearance in Early Primary Lateral Sclerosis.
Neurology IndiaAmyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored?
Aging brainThe expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Amyotrophic lateral sclerosis & frontotemporal degenerationElectromyographic findings in primary lateral sclerosis during disease progression.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyFamilial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.
European journal of neurologyEmotional Processing and Experience in Amyotrophic Lateral Sclerosis: A Systematic and Critical Review.
Brain sciencesPropagation patterns in motor neuron diseases: Individual and phenotype-associated disease-burden trajectories across the UMN-LMN spectrum of MNDs.
Neurobiology of agingBlenderized Tube Feeding and Enterostomy Tube Occlusions Among Adults with Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis.
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American journal of physical medicine & rehabilitationAssociações
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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 Amyotrophic Lateral Sclerosis House Call Program: A Single-Center Experience in the United States.
- TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.
- Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria.
- The Epidemiology of Primary Lateral Sclerosis: Results from a Population-Based Cohort.
- Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes Assessment.
- Primary lateral sclerosis in Brazil: phenotypic heterogeneity, non-motor features, and prognostic markers in a 17-year multicentre cohort.
- Disappearing corticospinal tract on routine MRI: dynamic signal evolution in primary lateral sclerosis.
- Neuroimaging confirms selective cerebral involvement in primary lateral sclerosis and predilection to brain regions with high metabolic activity.
- Expanding the Motor Band Sign in Motor Neuron Disease Using 7T MRI: Visualization of Cortical Layer-Dependent Iron Deposition in the Primary Motor Cortex.
- Prospective Validation of the New PLS Diagnostic Criteria From PLS Natural History Study: EMG and Neurofilament Analyses.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:35689(Orphanet)
- MONDO:0018155(MONDO)
- GARD:10684(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2881413(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
