Doença neuromuscular progressiva que afeta neurônios motores, causando fraqueza muscular generalizada, atrofia e dificuldades bulbares. Sintomas incluem disfagia, disartria e fraqueza nos membros, com início na idade adulta.
Introdução
O que você precisa saber de cara
Visão geral
A atrofia muscular bulbo-espinhal generalizada é uma doença neuromuscular rara que afeta os neurônios motores, responsáveis pelo controle dos movimentos musculares. A condição leva à fraqueza e atrofia (diminuição) dos músculos, especialmente aqueles controlados pelo bulbo (região do tronco cerebral) e pela medula espinhal. Ainda não há dados precisos sobre sua prevalência na população.[1]
Sinais e sintomas
Os sintomas podem variar de pessoa para pessoa, mas geralmente incluem fraqueza muscular progressiva, dificuldade para engolir (disfagia), fala arrastada (disartria) e fraqueza nos membros. A idade de início dos sintomas não está claramente definida na literatura disponível.[1]
Causas genéticas
Diagnóstico
Tratamento e manejo
O manejo da atrofia muscular bulbo-espinhal generalizada é focado no alívio dos sintomas e na melhora da qualidade de vida. Não há medicamentos específicos aprovados para esta condição. O tratamento pode incluir fisioterapia, terapia ocupacional e fonoaudiologia para ajudar com a fraqueza muscular e dificuldades de deglutição e fala. No Brasil, a cobertura pelo SUS é considerada mínima para esta condição.[1]
Prognóstico e qualidade de vida
O prognóstico varia conforme a progressão dos sintomas em cada pessoa. O acompanhamento multidisciplinar é importante para manter a funcionalidade e qualidade de vida pelo maior tempo possível.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A atrofia muscular bulbo-espinhal generalizada é uma denominação catalogada internacionalmente que reúne quadros de fraqueza e alterações neuromusculares que atingem regiões espinhais e bulbares. Na prática clínica, essas condições costumam causar impactos motores e demandam monitoramento sistemático para controle de sintomas funcionais e comorbidades. No Brasil, esta condição não consta na lista oficial de PCDT de doenças raras do Ministério da Saúde, inexistindo remédios específicos dispensados pelo SUS para esta entidade sob essa nomenclatura. O suporte e o acompanhamento das famílias e pacientes são realizados pela rede de serviços de saúde por meio de cuidados clínicos e multiprofissionais contínuos.
Doença neuromuscular progressiva que afeta neurônios motores, causando fraqueza muscular generalizada, atrofia e dificuldades bulbares. Sintomas incluem disfagia, disartria e fraqueza nos membros, com início na idade adulta.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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 bulbo-espinhal generalizada
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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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy.
Risdiplam, an oral disease-modifying therapy, has demonstrated safety and efficacy in clinical trials, but real-world data from Asia are limited. This prospective study followed 34 symptomatic SMA patients (24 adults, 10 children) over 36 months of risdiplam treatment. The cohort included 5 patients with SMA type 1, 25 with SMA type 2, and 4 with SMA type 3, with ages ranging from 6.9 to 50.9 years. Most (91%) were wheelchair users, and 74% had scoliosis managed by bracing or spinal surgery. Twenty-five patients (22 adults, 3 children) were treatment naïve, and 9 patients (2 adults, 7 children) switched from nusinersen. Motor function was assessed at baseline, 6, 12, 24, and 36 months using MFM-32, RULM, ATEND, and HFMSE. In pediatric patients, HRQOL was evaluated using PedsQL Neuromuscular Module and PedsQL Generic Core scale. HRQOL of their parents was assessed with PedsQL Family Impact Module. After 36 months, MFM-32 score was significantly improved in those switching therapies [p = 0.042], while both MFM-32 and RULM scores were significantly improved in treatment-naïve group [p = 0.005 and p = 0.043]. Parents experienced HRQOL gains in their Physical domain (2 years: PedsQL Family Impact Module, p = 0.038). Pediatric patients showed improvement in the Communication domain (3 years: PedsQL Neuromuscular Module, p = 0.042). Risdiplam was generally well tolerated; however, two adults discontinued due to adverse effects. Moreover, two adult patients died during treatment. This study fills Asian real-world data gaps, stresses the importance in monitoring in severe SMA, and underscores the need for larger, long-term safety and efficacy studies.
Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder with high treatment costs and significant psychosocial burden. In 2021, Türkiye launched a national premarital SMA carrier screening program integrated with in vitro fertilization (IVF) with preimplantation genetic testing (PGT) services for couples identified as carriers. This study aimed to compare the costs associated with the carrier screening and prevention program versus a no-screening (treatment-only) scenario. A cost comparison model was developed using data from the Turkish Statistical Institute, the Ministry of Health, and the Social Security Institution. The annual costs of SMA treatment (with nusinersen and risdiplam) and the costs associated with carrier screening, genetic counseling, and IVF with PGT were compared. Projections estimated 115 new SMA cases annually based on national birth rates and carrier frequencies. The total annual cost of the premarital carrier screening and prevention program was estimated at TRY 112,801,201.6 (EUR 2,418,550.6). In contrast, the treatment of 115 new cases of SMA with nusinersen would cost TRY 1,091,623,700 in the first year alone, reaching a cumulative cost of TRY 2,183,247,377 over three years. The three-year cumulative cost for risdiplam treatment was calculated as TRY 1,196,414,795. The cost of preventing the birth of one SMA-affected child through the screening program was estimated as TRY 854,554.6, whereas treatment costs per child reached as high as TRY 18,984,759.6 with nusinersen. The SMA premarital carrier screening and prevention program in Türkiye significantly reduces healthcare expenditures and disease burden. Primary prevention through carrier screening is associated with lower overall costs than long-term treatment, offering both economic and social advantages for public health policy.
Administration practice and adherence of nusinersen in adults with 5q-spinal muscular atrophy in China: an ambispective multicenter study.
Due to nusinersen’s route of administration and dosing regimen, the spinal muscular atrophy (SMA) population and/or their caregivers need to travel to hospitals and work around physician’s schedules to receive treatment. Real-world studies with large sample sizes on administration practice and adherence rate of nusinersen are lacking, especially in non-United States settings. This study aimed to investigate the administration practice and adherence of nusinersen in Chinese adults with 5q-SMA. An ambispective, multicenter registry of adults with 5q-SMA in China provided the longitudinal data for this analysis. Nusinersen was scheduled on Day 0, 14, 28, 63, and every 4 months thereafter. Adherence rate was calculated at dose level. A dose was deemed adherent if the interval between the current and preceding dose aligned with the standard dosing regimen, allowing a grace period of ± 7 days for doses 2 through 4 and ± 28 days for all subsequent doses. A total of 177 participants receiving nusinersen with 1,329 doses were included in the study. All injections were given in inpatient setting with no ventilatory support or sedation needed. Only one injection (0.1%) was performed under general anesthesia. Almost all (n = 1,322, 99.5%) injections were given through interspinous lumbar puncture. Injections in participants with scoliosis require more imaging techniques for guiding administration compared with those in participants without scoliosis (68.3% vs. 29.1%). Ultrasound was the most commonly used guide before or during administration (674/708). The adherence rate was 92.8% (1,062/1,144). The median inter-dose intervals aligned well with dosing schedule, with 14 days for Dose 2 and 3, 35 days for Dose 4, and 120–124 days for Dose 5 to 10 as maintenance doses. Findings characterize the patterns of nusinersen administration practice, demonstrating high real-world adherence to nusinersen administration in Chinese adults with 5q-SMA. The registry was registered at clinicaltrials.gov (NCT05618379) on November 16th, 2022. The online version contains supplementary material available at 10.1186/s12883-026-04730-x.
Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies.
Ideal timing and treatment in asymptomatic newborns with 4 SMN2 copies remains controversial. We examined phenotypic variability among the Hutterite population with spinal muscular atrophy (SMA) and higher SMN2 dosage. We enrolled individuals with SMA and children born to couples with 1 copy of SMN1 in South Dakota and Montana Hutterite communities in a natural history study that included a focused medical history and genomic screening for SMN1 deletion(s) and SMN2 copy number. Of the 215 Hutterite individuals enrolled, 75 carried at least 1 SMN1 deletion allele with >2 SMN2 copies. All 21 affected individuals (8 months to 41 years) had 0 SMN1 and 4 SMN2 copies but not the modifying variants SMN2 c.859G>C and SMN2 c.-44A>G. Clinical diagnoses of SMA type 3a (N = 14), SMA type 3b (N = 6), or SMA type 4 (N = 1) were determined based on age of onset and maximum achieved motor function. Although age of onset was highly variable (10 months to 25 years), most individuals presented in early childhood, indicating a need to identify biomarkers that can more accurately predict outcomes to help guide treatment intervention. This study also provides strong evidence supporting early implementation of therapies for patients with SMA with 4 copies of SMN2.
Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes.
This study aims to analyze the use of patient-reported outcomes measures (PROMs), observer-reported outcome measures (ObsROMs), and caregiver-reported outcome measures (CROMs) in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). The objectives are twofold: (1) to identify and characterize available instruments to be used in research and clinical practice, and (2) to assess their inclusion in drug development and regulatory assessment processes. A systematic search was conducted using PubMed, Google Scholar, Scopus, and the ePROVIDE database to identify PROMs, ObsROMs, and CROMs for SMA and DMD. The identified instruments were analyzed for validation, psychometric properties, Minimal Clinically Important Difference (MCID), and recall period. Additionally, clinical trial protocols, relative study publications, European Public Assessment Report (EPAR), and Italian Medicines Agency (AIFA) reports for innovativeness recognition on medicines for SMA and DMD (i.e., nusinersen, onasemnogene abeparvovec, risdiplam, and ataluren) were reviewed to evaluate the inclusion of these measures in drug development and regulatory assessment. The initial search identified 50 questionnaires, including 40 PROMs, 5 ObsROMs, and 5 CROMs. Of these, 15 (30.0%) instruments were included in pivotal clinical trial protocols, with none designated as primary endpoints. Only 6 (12.0%) instruments were mentioned in EPARs, and MCID determination was reported for 6 (12.0%) of the instruments. Generic instruments like the PedsQL were frequently used but criticized for limited specificity. Despite the availability of PROMs, ObsROMs, and CROMs for SMA and DMD, their use in clinical trials and regulatory documents is limited and inconsistent. Greater standardization and systematic inclusion of these measures are needed to support patient-centered drug development and evaluation. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease. The diagnosis of SMA is established in a proband with a history of motor difficulties or regression, proximal muscle weakness, reduced/absent deep tendon reflexes, evidence of motor unit disease, and/or biallelic pathogenic variants in SMN1 identified by molecular genetic testing. Increases in SMN2 copy number often modify the phenotype. Targeted therapies: Therapies targeted to the underlying disease mechanism include risdiplam (Evrysdi®; SMN2-directed RNA splicing modifier), nusinersen (Spinraza®; antisense oligonucleotide), and onasemnogene abeparvovec-xioi (Zolgensma®; gene replacement therapy) for the treatment of all types of SMA. Onasemnogene abeparvovec-brve (Itvisma®; gene replacement therapy) can also be given as a one-time intrathecal treatment for affected individuals ages 2 years and older. Treatment with an SMA-specific disease-modifying treatment is most efficacious when initiated presymptomatically. The FDA has issued a black box warning about Zolgensma®, noting the possibility of serious liver injury and acute liver failure. The FDA has also issued a black box warning about Itvisma®, noting the possibility of serious liver injury and elevated aminotransferases. Close monitoring of liver function prior to and in the months following infusion with either Zolgensma® or Itvisma® is indicated. These targeted treatments may prevent the development or slow the progression of some features of SMA but cannot restore motor neurons that have degenerated or been lost already. New phenotypes in treated individuals are arising, and long-term effects of these treatments are unknown. Supportive care: Proactive supportive treatment by a multidisciplinary team is essential to reduce symptom severity, particularly in the most severe cases of SMA and/or in untreated individuals. When nutrition or dysphagia is a concern, placement of a gastrostomy tube early in the course of the disease is appropriate. Standard therapy for gastroesophageal reflux disease and chronic constipation is recommended. Formal consultation and frequent follow up with a pulmonologist familiar with SMA is necessary. As respiratory function deteriorates, tracheotomy or noninvasive respiratory support may be offered. Surgical repair for scoliosis should be considered based on progression of the curvature, pulmonary function, and bone maturity. Surgical intervention for hip dislocation for those with pain may be indicated. Surveillance: Individuals with SMA require monitoring for the development of symptoms to determine appropriate timing to initiate supportive therapies. Surveillance recommendations for potential side effects and new phenotypes associated with the targeted treatments are emerging. Multidisciplinary evaluation every six months or more frequently for weaker children is indicated to assess nutritional state, respiratory function, motor function, and orthopedic status, and to determine appropriate interventions. Agents/circumstances to avoid: Prolonged fasting, particularly in the acutely ill infant with SMA. Evaluation of relatives at risk: It is appropriate to determine the genetic status of younger, apparently asymptomatic sibs of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of disease-modifying treatments. Pregnancy management: Women with SMA may have an increased rate of preterm birth and need for cesarean section compared to unaffected women. Women with SMA may also experience a persistent worsening of their general muscle weakness after delivery, particularly if disease-modifying therapies are discontinued due to pregnancy status. Due to the risk of respiratory failure, it is recommended that women with neuromuscular disorders, including those with SMA, obtain baseline pulmonary function prior to becoming pregnant, with frequent monitoring during pregnancy. There is limited to no data on the effects of disease-modifying treatments on the developing human fetus. However, based on animal models, risdiplam use should be avoided in pregnant women. SMA is inherited in an autosomal recessive manner. Each pregnancy of a couple who have had a child with SMA has an approximately 25% chance of producing an affected child, an approximately 50% chance of producing an asymptomatic carrier, and an approximately 25% chance of producing an unaffected child who is not a carrier. These recurrence risks deviate slightly from the norm for autosomal recessive inheritance because about 2% of affected individuals have a de novo SMN1 pathogenic variant on one allele; in these instances, only one parent is a carrier of an SMN1 variant, and thus the sibs are not at increased risk for SMA. Ideally preconception (but also prenatal) carrier testing for all individuals in the general population and prenatal testing for pregnancies at increased risk are possible if the diagnosis of SMA has either been confirmed by molecular genetic testing in an affected family member and/or if both parents are found to be carriers of SMA on carrier screening testing.
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📚 EuropePMCmostrando 197
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Brain : a journal of neurologyNon-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.
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Neurology and therapyDisease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China.
BMC neurologyArginine methylation-dependent METTL14-SMN interaction regulates RNA m6A homeostasis.
EMBO reportsMeasuring health-related quality of life in spinal muscular atrophy - Lessons learned from a Nationwide registry study in Germany.
Journal of the neurological sciencesIntrathecal Therapies for Neurodegenerative Diseases: A Review of Current Approaches and the Urgent Need for Advanced Delivery Systems.
BiomedicinesReduction in Perioperative Risk in Patients with Spinal Muscular Atrophy Following the Release of Disease-Modifying Therapies: An Analysis of the National Surgical Quality Improvement Program Database.
Children (Basel, Switzerland)Feasibility of a Home-Based Exergaming Intervention for Youth With Spinal Muscular Atrophy.
Muscle & nerveMagnetomyographic evaluation of motor unit size that is robust to changes in distance to sensor.
Brain communicationsElectrodiagnostic and Functional Biomarkers for Non-Ambulatory Children With Late-Onset Spinal Muscular Atrophy.
Muscle & nerveBest practice recommendations for the clinical care of spinal bulbar muscular atrophy.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneCamptocormia in Parkinson's disease: state of the art and future directions.
Journal of neurologyMental Health, Quality of Life, and Work Functioning of Parents of Children Who Have Died of Spinal Muscular Atrophy.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchPhenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Journal of neuromuscular diseasesCentral Neurophysiological Alterations in Dystrophic mdx Mice Correlate With Reduced Hippocampal Levels of the Endogenous NMDA Receptor Ligand D-Aspartate.
Journal of neurochemistryThe Ighmbp2 -R604X mouse recapitulates the severe SMARD1 clinical symptoms of aspiration, respiratory and feeding deficits.
bioRxiv : the preprint server for biologyTargeting Amyotrophic Lateral Sclerosis with Gene Therapy: From Silencing Genes to Enhancing Neuroprotection.
Human gene therapy[Multi-system involvement characteristics and influencing factors of disease progression in Kennedy's disease].
Zhonghua nei ke za zhiComorbidities in spinal muscular atrophy and their impact on the course of the underlying disease: a real-life observational study.
BMC musculoskeletal disordersTransforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2.
BiomedicinesCombination therapies in spinal muscular atrophy: a systematic review.
European journal of pediatricsFinancial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.
NeurologyA multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of SMN1/SMN2/NAIP copy number and SMN1 loss-of-function variants.
Clinical chemistry and laboratory medicineSafety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.
The Lancet. NeurologyApplication of the Gross Motor Function Measure in children with conditions other than cerebral palsy: A systematic review.
Developmental medicine and child neurologyIn vivo self-assembled SOD1-siRNAs mitigate muscle atrophy and denervation in amyotrophic lateral sclerosis.
Brain : a journal of neurologySpinal and bulbar muscular atrophy with hand tremors and chronic limb weakness, Kennedy disease.
BMJ case reportsSingle-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study.
World journal of pediatrics : WJPLongitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy.
Orphanet journal of rare diseasesNeurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.
Scientific reports[An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology].
Rinsho shinkeigaku = Clinical neurologyThe long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.
Turkish journal of medical sciencesNondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II.
AACE endocrinology and diabetesRetrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Neurology. GeneticsA novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
Italian journal of pediatrics"Not Only Has She Survived, But She Lives a Happy Life": Parents' Perspectives and Experiences of a Novel Disease-Modifying Therapy for Spinal Muscular Atrophy in Sweden.
Journal of child neurologyRisdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series.
BMC neurologyAgreement Between Child Self- and Parent Proxy-Reports of Health-Related Quality of Life in Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.
Patient related outcome measuresReanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.
Neurology. GeneticsBulbar-Onset Amyotrophic Lateral Sclerosis Unmasked by General Anesthesia: A Case Report.
CureusThe Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies.
Journal of neurochemistrySwitching disease-modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes.
British journal of clinical pharmacologyGene therapy with covalently closed-end AAV vector for spinal muscular atrophy.
Molecular therapy : the journal of the American Society of Gene TherapyThe first word in accessibility is "access".
Augmentative and alternative communication (Baltimore, Md. : 1985)Impacts of pathogenic mutations on the structures of the CHCHD10 monomer: An AlphaFold3 study linked to the generation of conformational ensembles.
International journal of biological macromoleculesAccurate Quantification of Mutant and Wild-Type polyQ Proteins Using Simple Western Capillary Immunoassays.
Molecular neurobiologyAssociation between sarcopenia on residual back pain after percutaneous kyphoplasty for osteoporotic vertebral compression fractures.
Journal of orthopaedic surgery and researchA Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions.
International journal of molecular sciencesInternal fixation of a fractured cranial articular process of the sixth cervical vertebra by means of computer-assisted surgery in a Warmblood gelding.
Veterinary surgery : VSDose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.
Acta neuropathologica communicationsNeuromuscular and cardiac organoids and assembloids: Advanced platforms for drug testing.
Pharmacology & therapeuticsThinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop.
Journal of neuromuscular diseasesPostmarketing adverse events associated with onasemnogene abeparvovec: a real-world pharmacovigilance study.
Orphanet journal of rare diseasesBeyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyLong-Term Effects of Nusinersen Dosing Frequency on Adult Patients With Spinal Muscular Atrophy: Efficacy of a 6-Month Dosing Interval.
Brain and behaviorGuidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.
PathologySMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA.
Neurology and therapySerial casting for contractures in SMA: consensus derived guidelines for treatment.
Frontiers in neurologyThe safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives.
Revue neurologiquePreclinical evaluation of AAV9-coSMN1 gene therapy for spinal muscular atrophy: efficacy and safety in mouse models and non-human primates.
Molecular medicine (Cambridge, Mass.)Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.
Orphanet journal of rare diseasesAnaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report.
JPMA. The Journal of the Pakistan Medical AssociationAnesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report.
BMC anesthesiologyNusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort.
Frontiers in neurologyNationwide Survey of Oral Function Management in Patients With Neuromuscular Intractable Diseases in Japan.
CureusUpper limb motor function in individuals with SMA type 2: natural history and impact of therapies.
Journal of neurologyFeeding development in healthy infants: A comparative framework for children with Spinal Muscular Atrophy - The DySMAnorm study.
International journal of pediatric otorhinolaryngologyPrenatal genetic counseling challenges with indeterminate SMA results.
Journal of genetic counselingEarly life safety profiling of gene therapy for spinal muscular atrophy.
Gene therapyRehabilitation practices for childhood spinal muscular atrophy.
Disability and rehabilitationA Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.
The Journal of molecular diagnostics : JMDAdministration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China.
BMC pediatricsAssessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review.
Neuromuscular disorders : NMDViews of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong.
CureusWhat Time Is It? Circadian Rhythm Abnormalities in a Patient With Spinal Muscular Atrophy.
Pediatric pulmonologyReal-world evidence in spinal muscular atrophy: addressing heterogeneity of populations and treatment comparisons.
The Lancet regional health. EuropeCarrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.
JBRA assisted reproductionExpansion of Splice-Switching Therapy with Antisense Oligonucleotides.
International journal of molecular sciencesTargeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.
Journal of translational medicineActivated Microglia Mediate the Motor Neuron-, Synaptic Denervation- and Muscle Wasting-Changes in Burn Injured Mice.
Journal of cachexia, sarcopenia and muscleA state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.
Journal of neuromuscular diseasesAnalysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.
Orphanet journal of rare diseasesCost Trends of New-To-Market Neurologic Medications: An Insurance Claims Database Analysis.
NeurologyPregnancy and delivery in a woman with spinal muscular atrophy type III.
European journal of obstetrics, gynecology, and reproductive biologyComparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers.
Scientific reportsNewborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.
International journal of neonatal screeningThe Effect of Disease-Modifying Therapies on Lung Function and Respiratory Muscle Strength in Spinal Muscular Atrophy: Systematic Review and Meta-Analysis.
Respiratory careTriumphs, Trials, and Future Considerations in Genetic Therapies for Hereditary Neuromuscular Diseases.
Missouri medicineExperience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyGenomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.
Orphanet journal of rare diseasesMulti-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients.
Journal of neurologySpinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic.
Frontiers in neuroscienceCre-Lox miRNA-delivery technology optimized for inducible microRNA and gene-silencing studies in zebrafish.
Nucleic acids researchTeaching Video NeuroImage: Minipolymyoclonus: A Clinical Clue to Spinal Muscular Atrophy.
NeurologyNeural Stem/Progenitor Cell Therapy in Patients and Animals with Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-analysis.
Molecular neurobiologyCerebral venous sinus thrombosis after intrathecal administration of nusinersen.
BMJ case reportsGeneration of an induced pluripotent stem cell line from a Kennedy Disease patient with AR mutation.
Stem cell researchUltrasound-assisted and landmark-based nusinersen delivery in spinal muscular atrophy adults: A retrospective analysis.
Australasian journal of ultrasound in medicineGeneration of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.
Stem cell researchDirect assessment of hereditary hemochromatosis in preimplantation genetic testing.
F&S scienceAdvances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders.
Seminars in respiratory and critical care medicineSpinal muscular atrophy is also a disorder of spermatogenesis.
Orphanet journal of rare diseasesA self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.
Arquivos de neuro-psiquiatriaInvestigating a Domain Adaptation Approach for Integrating Different Measurement Instruments in a Longitudinal Clinical Registry.
Biometrical journal. Biometrische ZeitschriftOffering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.
Australian journal of general practicePostural Tremor Caused by Hirayama Disease Mimicking Essential Tremor.
Tremor and other hyperkinetic movements (New York, N.Y.)Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.
Genetics in medicine : official journal of the American College of Medical GeneticsLongitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.
Einstein (Sao Paulo, Brazil)Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.
European journal of obstetrics, gynecology, and reproductive biologyNeuromuscular diseases: genomics-driven advances.
Genomics & informaticsFunctional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
NeurologyEfficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study.
Neurology internationalCommon complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment.
The Turkish journal of pediatricsDeepRSMA: a cross-fusion-based deep learning method for RNA-small molecule binding affinity prediction.
Bioinformatics (Oxford, England)The impact of neurological impairment and tone on hip joint development.
Journal of children's orthopaedicsThe Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review.
Journal of clinical medicineA causal inference framework for leveraging external controls in hybrid trials.
BiometricsImpact of respiratory tract infections on spinal muscular atrophy with focus on respiratory syncytial virus infections: a single-centre cohort study.
Swiss medical weeklyIghmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Experimental neurologyClinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.
GenesEfficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
The Lancet regional health. EuropeSubjective Valuation of Screening for Spinal Muscular Atrophy and Analysis of its Influencing Factors: Evidence from Iran.
Medical journal of the Islamic Republic of IranSpinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment Considerations.
Neurology. Clinical practiceSpinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.
Journal of community geneticsRecent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy.
Acta neurologica TaiwanicaPresumptive motor neuron degeneration in an adult cat.
The Canadian veterinary journal = La revue veterinaire canadienneEvaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy.
Human genomicsGlucose and Lipid Metabolism Disorders in Adults with Spinal Muscular Atrophy Type 3.
Diagnostics (Basel, Switzerland)One case of spinal bulbar muscular atrophy misdiagnosed as polymyositis: Case report.
MedicineQuality of Life Assessment in Romanian Patients with Spinal Muscular Atrophy Undergoing Nusinersen Treatment.
Neurology internationalThe bench to bedside journey of tricyclo-DNA antisense oligonucleotides for the treatment of Duchenne muscular dystrophy.
RSC medicinal chemistryProteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.
Cellular and molecular life sciences : CMLSPrognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.
European journal of pediatricsUbiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective.
International journal of molecular sciencesNeurosurgical gene therapy for central nervous system diseases.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsAssociações
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É um termo classificado na Orphanet como um grupo de fenótipos, identificado pelo código ORPHA:206710. Essa categoria reúne desordens caracterizadas por acometimento muscular e motor das regiões bulbar e espinhal.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
3 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Atrofia muscular bulbo-espinhal generalizada. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/atrofia-muscular-bulbo-espinhal-generalizada
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Dado público estruturado
- fonte: Wikidata
