The devices are available for patients aged 17 years and older at no extra cost and can be used after receiving training from a healthcare professional. Two new medical devices that will facilitate ...

POEMS syndrome remains a diagnostic challenge due to its variable presentation and overlap with other demyelinating neuropathies, such as CIDP. Cases of polyneuropathy, organomegaly, endocrinopathy, ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Milo Caseri, 6, and college athlete Caleb Wheatland at an Uplifting Athletes event in College Park, Maryland (Photo courtesy of Whitney Caseri) The Uplifting Experiences program hosted 31 events with ...

This comprehensive popPK analysis adds to the pool of knowledge on oligonucleotide PK properties and helps optimize the appropriate use of imetelstat. The nonlinear mixed-effects model identified ...

The modified Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) is a psychometrically stable and unidimensional outcome measure, even though certain items are misfitting like those related to ...

In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Patients with ANCA-positive interstitial lung disease (ILD) exhibited a high prevalence of fibrotic patterns and mortality largely driven by the ILD itself. In patients with interstitial lung disease ...

A patient presented with task-related isolated transient weakness in her right hand, which started 15 years before and lasted for 9 years without worsening or improvement. Distal myasthenia gravis (MG ...

(L-R) Rare Disease Advisor senior correspondent Larry Luxner, patient columnists Alithea Athans, Tara Keith and Tom Bartlett, and director of advocacy relations Vera Luxner (Photo by Riya Ajmera) ...