News

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

The U.S. Food and Drug Administration (FDA) has approved Ruzurgi (amifampridine) for the treatment of children ages 6–17 with Lambert-Eaton myasthenic syndrome (LEMS). The approval makes Ruzurgi, developed by Jacobus Pharmaceutical, the only therapy approved for children with LEMS. In December 2018, the FDA announced the approval of…

Patients who have Lambert-Eaton myasthenic syndrome (LEMS) associated with small cell lung cancer (SCLC) seem to have better long-term survival than cancer patients without this neurologic syndrome, a study shows. The study, “Long-term survival in paraneoplastic Lambert-Eaton myasthenic syndrome,” was published in the journal Neurology.

Lambert-Eaton myasthenic syndrome (LEMS) has a similar prevalence and incidence in the U.S. compared with European populations, and most patients get better with therapy, particularly with 3,4-DAP – the active ingredient in Firdapse – a nationwide study using patient…

A case of paraneoplastic cerebellar degeneration (PCD) and Lambert-Eaton myasthenic syndrome (LEMS) was associated with a hormone-related tumor in a patient’s oropharynx, or the middle part of the throat, according to a case report. Although both of these neurological conditions have been linked to lung cancer, this is…

A recent case report of a man diagnosed with simultaneous Lambert-Eaton myasthenic syndrome (LEMS) and limbic encephalitis (LE) highlights the need for thorough screening of patients, especially those with unusual symptoms. The case report, titled “Paraneoplastic Lambert–Eaton Myasthenic Syndrome With Limbic Encephalitis: Clinical Correlation With the Coexistence of…

An animal model of Lambert-Eaton myasthenic syndrome (LEMS) has enabled better understanding of what drives the hallmark reduction in acetylcholine release as well as effective testing of treatment candidates. The study, “Lambert-Eaton myasthenic syndrome: mouse passive-transfer model illuminates disease pathology and facilitates testing therapeutic leads,” appeared in…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…