Rare Diseases

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).

Drs Mirla Avila, Mitzi Williams, Michael Levy, and Michael Yeaman comment on research and development priorities for clinical care and emerging therapies for NMOSD.

Mitzi Williams, MD; Mirla Avila, MD; Michael Levy, MD, PhD; and Michael Yeaman, PhD, explore how health care professionals can better engage diverse racial and ethnic groups with NMOSD to improve care and enroll in clinical trials.

Experts in neurology review the occurrence and severity of infections in women and special patient populations with NMOSD and share their thoughts on the use of vaccines to prevent infections.

Michael Levy, MD, PhD, leads a discussion on the safety and efficacy of FDA-approved therapies for the management of NMOSD.

Mitzi Williams, MD; Mirla Avila, MD; and Michael Levy, MD, PhD, highlight gaps in care in NMOSD therapy.

Drs Mirla Avila, Mitzi Williams, Michael Levy, and Michael Yeaman provide insight on goals of therapy and the importance of mental health and symptom management for patient populations with NMOSD.

Mitzi Williams, MD; Mirla Avila, MD; and Michael Levy, MD, PhD, discuss their approach to optimizing treatment selection when it comes to newer therapies, cost, and accessibility of therapies.

Experts in neurology share their experiences with how patients with NMOSD are utilizing health care, and helping patients achieve optimal care.

Mirla Avila, MD, leads a discussion on the impact of NMOSD on women’s health and the role of continued education for physicians.

Drs Michael Levy, Mirla Avila, Mitzi Williams, and Michael Yeaman assess atypical presentations of NMOSD and the importance of building trust in a patient-provider relationship.

Mirla Avila, MD; Mitzi Williams, MD; Michael Levy, MD, PhD; and Michael Yeaman, PhD, review the role of a multidisciplinary team and gaps in the chain of care in the management of NMOSD.

Experts in neurology share considerations and challenges for health care providers in diagnosing NMOSD, including education for non neurology health care providers and available diagnostic assays.

Mitzi Williams, MD, leads a discussion on the impact of the disease on quality of life for patients with NMOSD and their families.

Mirla Avila, MD; Michael Levy, MD, PhD; and Mitzi Williams, MD, share the clinical presentation and progression of NMOSD among various racial and ethnic groups and highlight the effects of socioeconomic disparities and personal barriers on access to proper care.

Drs Mitzi Williams, Mirla Avila, and Michael Levy comment on the differences in pathogenesis in various patient populations affected by NMOSD as it relates to genetics, comorbidities, and immune tolerance.

Michael Levy, MD, PhD; Mitzi Williams, MD; and Mirla Avila, MD, examine the genetic, behavioral, and cultural determinants of NMOSD prevalence and incidence.

The chief medical officer at Cure SMA spoke to the ongoing work that the organization does in advocating for patients with spinal muscular atrophy, particularly for newborn screening.

This additional application, supported by data from the GWPCARE6 trial, seeks to expand the indication of cannabidiol to include seizures associated with tuberous sclerosis complex.

Study data demonstrates that treatment with satralizumab reduces risk of relapses in patients with neuromyelitis optica spectrum disorder.

The regulatory agency cited 2 concerns in the complete response letter: the risk of infections related to intravenous infusion ports and renal toxicity.

The genomic revolution has led to increasing opportunities to address complex neurodevelopmental conditions, taking a genetics-first approach.

The profound consequences of the results guide decisions about testing. Who should be tested? And, just as important, who should not?

Here’s a brief look at therapies for neurological disorders that the FDA has approved within the past 6 months.

EEG and brain MRI findings are normal-what do you suspect?

Are you up-to-date on recent guidelines for the management of agitation, anxiety, apathy, psychosis, and sleep disorders in patients with Huntington disease? Take this brief quiz to find out.