John F. Brandsema, MD

An expert discusses how older Duchenne muscular dystrophy patients in advanced stages face uncertainty regarding newer therapies since most research focuses on younger children, but gene therapy and other treatments remain considerations alongside comprehensive specialty care for managing complex comorbidities.

An expert discusses how proactive cardiac care should begin at diagnosis with regular monitoring, while pulmonary function typically peaks around age 8 to 10 before declining, requiring early intervention with breathing exercises and assistive devices before problems become severe.

An expert discusses how a 16-year-old postambulatory DMD patient exemplifies typical challenges including social withdrawal and increasing care needs, emphasizing the critical importance of comprehensive interdisciplinary care teams despite families' perceptions of limited treatment options.

An expert discusses how treatment for the 13-year-old patient should optimize standard care with cardiac and pulmonary monitoring while considering newer therapies like givinostat and casimersen, plus exploring research trials for gene transfer and muscle health approaches.

An expert discusses how genetic therapies like exon skipping and gene transfer aim to restore dystrophin function but face challenges in delivering complete protein restoration and achieving equivalent effectiveness across skeletal, cardiac, and pulmonary muscles.

An expert discusses how a 13-year-old boy with Duchenne muscular dystrophy faces the challenging transition to complete loss of ambulation, emphasizing the importance of gradual introduction of assistive devices and psychological support during this developmentally difficult period.

An expert discusses how a 13-year-old boy with Duchenne muscular dystrophy faces the challenging transition to complete loss of ambulation, emphasizing the importance of gradual introduction of assistive devices and psychological support during this developmentally difficult period.

The pediatric neurologist at Children’s Hospital of Philadelphia gave perspective on some of the main issues the clinical community is figuring out with gene therapies and their integration to clinical practice. [WATCH TIME: 3 minutes]

The pediatric neurologist at Children’s Hospital of Philadelphia provided background on a notable track session at the upcoming MDA Clinical & Scientific Conference covering updates in gene therapy for neuromuscular conditions. [WATCH TIME: 4 minutes]

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.