A time delay of 14 months on average still exists between the onset of clinical manifestations and the initial suspicion of cardiac amyloidosis. Despite advances in noninvasive diagnostic techniques, ...

The amyloid accumulation volume decreased significantly from 591.1 before tafamidis treatment to 213.8 following treatment. Tafamidis treatment inhibits the production of new amyloids in patients with ...

A chronic, nonproductive cough is another major presenting symptom of patients with IPF. As many as 80% of patients with IPF experience chronic cough. Chronic cough usually lasts at least 8 weeks and ...

The diagnosis and management of CIDP are complex and best addressed by an interprofessional health care team that includes neurologists, neuromuscular specialists, physical medicine and rehabilitation ...

The management of PI underwent a transformative shift in 1979 with the US Food and Drug Administration (FDA) approval of intravenous immunoglobulin (IVIg), which became the standard therapy for ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...

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 ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

Testing for elevated tryptase levels and mast cell activation may reveal SM in cases with multiple possible diagnoses. Diagnosis of systemic mastocytosis (SM) was delayed in a patient due to symptoms ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Frank Rivera, president of Stronger Than Sarcoidosis, speaks at the 2024 World Orphan Drug Congress USA in Boston, Massachusetts (Photo by Manuela Callari, PhD) Prolonged uncertainty about the future ...

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...