John F. Brandsema, MD

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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).

Neuromuscular medicine has entered an era of genetic therapy, opening the doors to questions about possible combination approaches and earlier initiation of treatment.

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.

John Brandsema, MD, and Julie Parsons, MD, review the evolution of combination therapy in clinical practice for the management of SMA.

John Brandsema, MD, comments on the importance of patient compliance to therapy to manage spinal muscular atrophy.

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.

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.

Experts in pediatric neurology provide insight on the efficacy of nusinersen and treatment response in patients with SMA.

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.

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.

Julie Parsons, MD, comments on the role of primary care providers and gene testing for the early diagnosis of spinal muscular atrophy.

Identifying spinal muscular atrophy through early diagnosis using prenatal and newborn screenings is discussed.

Julie Parsons, MD, discusses the importance of a multidisciplinary team approach to managing SMA in clinical practice.

John Brandsema, MD, leads the discussion on the 5 main types of spinal muscular atrophy and the evolution of disease classification.