News

A new study describes the rare case of a man who developed Lambert-Eaton myasthenic syndrome (LEMS) following treatment with the immunotherapies Opdivo (nivolumab) and Yervoy (ipilimumab) for small-cell lung cancer (SCLC). The research, “Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Scientists believe Firdapse (amifampridine phosphate) will soon become first-line management therapy for Lambert-Eaton myasthenic syndrome (LEMS), due to its stability, low-dose variability, good tolerability, and effectiveness, a review says. The study, “Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug,”…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Merkel cell carcinoma (MCC) should be included in the differential diagnosis of patients with Lambert-Eaton myasthenic syndrome (LEMS) who do not have lung cancer, a case report says. The case study, “Lambert-Eaton Myasthenic Syndrome and Merkel Cell Carcinoma,” was published in Cutis MDedge Dermatology.

The Triple-Timed Up-and-Go (3TUG) test is a rapid, non-invasive, reliable, and reproducible measurement for assessing muscle weakness in people with Lambert-Eaton myasthenic syndrome (LEMS), analysis of the Phase 2 DAPPER trial shows. The study, “Validation of the Triple Timed Up-and-Go Test in Lambert-Eaton Myasthenia,” was published in the…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Autoantibodies against the GRP78 protein could explain why some Lambert-Eaton myasthenic syndrome (LEMS) patients develop paraneoplastic cerebellar degeneration (PCD), a study suggests. The GRP78-targeting autoantibodies may disrupt the blood-brain barrier that shields the central nervous system, allowing LEMS autoantibodies to reach the brain. The study, “GRP78 antibodies damage…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…