Attending Physician, Neuromuscular/General Neurology & Electromyography; Neuromuscular Education Director and Neuromuscular Section Head, Children’s Hospital of Philadelphia
Key Considerations in Treatment of Spinal Muscular Atrophy / Considerações essenciais para o tratamento da atrofia muscular espinhal
The expert panel shares clinical pearls for treatment and management of Spinal Muscular Atrophy. O painel de especialistas compartilha recomendações valiosas para o tratamento e manejo da atrofia muscular espinhal.
Rare Diseases Awareness and Educational Needs / Conscientização sobre doenças raras e necessidades educacionais
Dr Marcelo Kerstenetzky highlights areas of unmet needs in rare diseases education for healthcare professionals in Brazil. Dr Marcelo Kerstenetzky ressalta áreas de carência na educação sobre doenças raras para profissionais de saúde no Brasil.
Spinal Muscular Atrophy Resources for Clinicians and Families / Recursos sobre atrofia muscular espinhal para profissionais de saúde e familiares
The expert panel shares recommendations and advice for care teams and families of patients with spinal muscular atrophy. O painel de especialistas compartilha recomendações e conselhos para equipes de saúde e familiares de pacientes com atrofia muscular espinhal.
Access to Clinical Trials for Spinal Muscular Atrophy in Brazil / Acesso a testes clínicos para atrofia muscular espinhal no Brasil
Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and Marcelo Kerstenetzky examine barriers to participation in clinical trials in Brazil for patients with spinal muscular atrophy. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e Marcelo Kerstenetzky analisam barreiras para a participação de pacientes com atrofia muscular espinhal em testes clínicos no Brasil.
Challenges in Spinal Muscular Atrophy Monitoring, Management and Access to Care in Brazil / Desafios no monitoramento da atrofia muscular espinhal, manejo e acesso a atendimento de saúde no Brasil
The expert panel discusses challenges in clinical monitoring and access to care for patients with spinal muscular atrophy in Brazil. O painel de especialistas discute desafios no monitoramento clínico e no acesso a atendimento de saúde para pacientes com atrofia muscular espinhal.
Management Based on Type of Spinal Muscular Atrophy, Patient Needs, and Age / Manejo baseado no tipo de atrofia muscular espinhal, necessidades e idade do paciente
Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega consider best practices for management based on the type of spinal muscular atrophy, age, and the therapy received. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega consideram melhores práticas de conduta baseados no tipo de atrofia muscular espinhal, idade e terapia recebida.
Monitoring and Management of Family Expectations During Spinal Muscular Atrophy Treatment / Monitoramento e manejo de expectativas das famílias durante o tratamento da AME
The expert panel discusses management of family expectations regarding post-therapy outcomes and strict patient monitoring. O painel de especialistas discute como lidar com expectativas das famílias em relação a resultados terapêuticos e em períodos de monitoramento rigoroso.
Role of Primary Care Providers and Pediatricians in Monitoring and Management of Spinal Muscular Atrophy / Papel de médicos da atenção primária e pediatras no monitoramento da atrofia muscular espinhal
Drs Marcelo Kerstenetzky, Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega discuss role of primary care physicians and pediatricians in monitoring in SMA. Drs Marcelo Kerstenetzky, Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega discutem o papel de médicos da atenção primária e pediatras no monitoramento da atrofia muscular espinhal.
Short-Term and Long-Term Care for Patients on Spinal Muscular Atrophy Treatment / Cuidados de curto e longo prazo para pacientes em tratamento para atrofia muscular espinhal
Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and John Brandsema highlight the importance of multidisciplinary care teams in monitoring and rehabilitation of patients with spinal muscular atrophy. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e John Brandsema enfatizam a importância de equipes multidisciplinares no monitoramento e reabilitação de pacientes com atrofia muscular espinhal.
Ideal Patient Profiles for Spinal Muscular Atrophy Therapies / Perfis ideais de pacientes para tratamento da atrofia muscular espinhal
The expert panel comments on ideal patient profiles for SMA treatment with nusinersen, onasemnogene abeparvovec, and risdiplam. O painel de especialistas comenta os perfis ideais de pacientes para tratamento da atrofia muscular espinhal com nusinersena, onasemnogeno abeparvoveque e risdiplam.
Clinical Data with Nusinersen, Onasemnogene abeparvovec, and Risdiplam, Spinal Muscular Atrophy Therapies / Dados clínicos com com Nusinersena, Onasemnogeno abeparvoveque e Risdiplam, terapias para atrofia muscular espinhal
Drs Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega discuss clinical trial data with nusinersen, onasemnogene abeparvovec, and risdiplam. Drs Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega discutem dados de testes clínicos com nusinersena, onasemnogeno abeparvoveque e risdiplam.
Spinal Muscular Atrophy Treatments Available in Brazil / Tratamentos para Atrofia Muscular Espinhal (AME) disponíveis no Brasil
Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça provide an overview of available treatments for spinal muscular atrophy in Brazil. / Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discutem tratamentos para atrofia muscular espinhal disponíveis no Brasil.
Genetic Changes in Spinal Muscular Atrophy (SMA) and Screening for SMA in Brazil / Mudanças genéticas na Atrofia Muscular Espinhal (AME) e screening de AME no Brasil
Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discuss genetic changes in spinal muscular atrophy and genetic screening in Brazil. / Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discutem mudanças genéticas em atrofia muscular espinhal e screening genético no Brasil.
Symptoms, Referrals and Importance of Early Diagnosis of Spinal Muscular Atrophy (SMA) in Children / Sintomas, encaminhamento e importância do diagnóstico precoce de Atrofia Muscular Espinhal (AME) em crianças
Drs Juliana Gurgel Giannetti, Adriana Banzzatto Ortega and Marcelo Kerstenetzky discuss symptoms of spinal muscular atrophy and diagnosis and referral process in Brazil. / Drs Juliana Gurgel Giannetti, Adriana Banzzatto Ortega e Marcelo Kerstenetzky discutem sintomas da atrofia muscular espinhal, diagnóstico e processo de encaminhamento no Brasil.
Overview of Spinal Muscular Atrophy (SMA) / Visão geral sobre Atrofia Muscular Espinhal (AME)
Dr Rodrigo de Holanda Mendonça provides an overview of spinal muscular atrophy (SMA). / Dr Rodrigo de Holanda Mendonça dá uma visão geral sobre Atrofia Muscular Espinhal (AME).
Highly Effective Gene Therapies for SMA: Where Do We Go From Here?
Neuromuscular medicine has entered an era of genetic therapy, opening the doors to questions about possible combination approaches and earlier initiation of treatment.
Genetic Neurodegenerative Disorders: Close to a Symptom-Free Life?
Although we have entered the age of genetically targeted therapies in the neuromuscular clinic, there are many unresolved clinical, economic, and ethical questions that require extensive further research.
Role of Combination Therapies in SMA Management
John Brandsema, MD, and Julie Parsons, MD, review the evolution of combination therapy in clinical practice for the management of SMA.
SMA: Patient Adherence to Therapy
John Brandsema, MD, comments on the importance of patient compliance to therapy to manage spinal muscular atrophy.
Using Small Molecule Treatment for SMA Management
Experts in pediatric neurology share insights on the role of small molecule treatment for SMA through the recent FDA approval of risdiplam and discuss factors to consider when tailoring therapy for individual patients.
Role of Gene Transfer Therapy in SMA
John Brandsema, MD, leads the discussion on the concept of gene transfer for the management of SMA and the recent approval of onasemnogene abeparvovec-xioi.
Role of Nusinersen in SMA: Efficacy and Treatment Response
Experts in pediatric neurology provide insight on the efficacy of nusinersen and treatment response in patients with SMA.
Targeted Therapies for SMA Management: Nusinersen
John Brandsema, MD, and Julie Parsons, MD, discuss the approval of nusinersen for the treatment of spinal muscular atrophy and their personal experiences regarding drug safety and administration in patients.
Early Referral to Neurologists for SMA Diagnosis
Expert pediatric neurologists review the importance of early recognition and referral to neurologists for the diagnosis of spinal muscular atrophy and when it’s appropriate to approach treatment.
Educating Primary Care Physicians on the Diagnosis of SMA
Julie Parsons, MD, comments on the role of primary care providers and gene testing for the early diagnosis of spinal muscular atrophy.
Early Detection and Screening of Spinal Muscular Atrophy
Identifying spinal muscular atrophy through early diagnosis using prenatal and newborn screenings is discussed.
Managing SMA in Clinical Practice
Julie Parsons, MD, discusses the importance of a multidisciplinary team approach to managing SMA in clinical practice.
Classification of Spinal Muscular Atrophy (SMA)
John Brandsema, MD, leads the discussion on the 5 main types of spinal muscular atrophy and the evolution of disease classification.