The coadministration of D156844 and AR42 leads to an additive improvement in survival in a model of spinal muscular atrophy (SMA), a study found.

Surgery for patients with achondroplasia should involve careful preoperative preparation and the use of specialized positioning equipment.

Patients with Wilson disease are at risk of osteoporosis and osteopenia, particularly older, male patients and those with skeletal symptoms.

Serum transthyretin levels appear to correlate with worse prognosis in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

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 ...

The EGPA treatment mepolizumab has shown safety and efficacy in decreasing the absolute number of eosinophils in peripheral blood and tissues.

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Cystic Fibrosis Foundation senior vice president Martin Mense, PhD.

Researchers presented the case of a patient with transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) coexisting with RA.

A rare case of coexisting diffuse large B-cell lymphoma (DLBCL) and classical Hodgkin lymphoma presents in a 60-year-old female patient.

James Bussel, MD, is emeritus professor of pediatrics, medicine, and obstetrics and gynecology at Weill Cornell Medicine in New York City.

A patient with upper eyelid and submandibular swelling was eventually diagnosed and treated for IgG4-related disease.

Jaycee Knox lives with severe hemophilia, which means his body makes less than 1% of factor VIII, a necessary clotting component to stop and regulate bleeding. He undergoes regular infusions at home ...