Rare Diseases

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.

Some good news about Huntington disease: most of the behavioral symptoms can be managed with treatments developed for other conditions.

What is the most common risk factor for Guillain-Barré Syndrome? Plus 4 other quick questions to test your knowledge. 

A 32-year-old woman presents with common symptoms that made up a rare diagnosis never seen by the neurologist in a decades-long career.

Some studies have suggested that, over the long-term, CoQ10 may increase type 2 muscle fibers, which are sometimes atrophied in individuals with PPP.

A patient presented to the hospital with sudden-onset flaccid muscle weakness. Her family history was notable for sudden cardiac death of unknown etiology.

Strategies and take-home points on sleep paralysis and its counterpart, isolated sleep paralysis, a REM sleep-related parasomnia commonly associated with intense fear and anxiety.

Dengue infection predominantly causes arthritis, fever, headache, and rash; hemorrhagic and neurologic manifestations may also result. What was the prognosis for this patient?

A young child’s neurological exam was notable for symmetrical decreased muscle strength and absence of deep tendon reflexes in both lower extremities. Learn about the case here.

A 47-year-old man presented with a longstanding history of recurrent transient episodes of muscular weakness. What’s your diagnosis?