Rare Disease News, Perspectives & Resources - Rare Disease Advisor
网页Rare Disease News, Perspectives & Resources - Rare Disease Advisor. The Increased Risk of Multiple Sclerosis Faced by Black Women. European Rare Cancer Network Provides Lessons for the US. Rare Disease Groups Lobbying Congress to Save Pediatric Drug Voucher Program. The Increased Risk of Multiple Sclerosis Faced by Black Women.
Myasthenia Gravis, Overview- Rare Disease Advisor
网页Myasthenia gravis (MG) is a rare neuromuscular disease but the most common condition affecting the neuromuscular junction (NMJ)in skeletal muscle. 1-3 The hallmark of MG is generalized fatigability and muscle weakness, which develop as a consequence of reduced transmission of electrical impulses across the NMJ. 3 Weakness can affect the ocular, bulbar, respiratory, axial, and limb muscles. 4
The 10 Biggest Stories in Rare Disease for 2023
网页2023年12月13日 · The 10 Biggest Stories in Rare Disease for 2023. December 13, 2023. 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 articles represents the most-read stories on …
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
网页Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, attack the cells lining small blood vessels, causing inflammation and damage. 1. Depending on which organ or system is affected, the symptoms of AAV can vary ...
Hemophilia Pathophysiology - Rare Disease Advisor
网页2023年10月29日 · Hemophilia is a rare, inherited, X-linked hemorrhagic disorder that results from a deficiency or dysfunction of coagulation protein factor VIII (FVIII) or factor IX (FIX). Deficiency or dysfunction of FVIII is associated with hemophilia A, and deficiency or dysfunction of FIX is associated with hemophilia B. 1,2.
ANCA-Associated Vasculitis Overview - Rare Disease Advisor
网页Overview. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises a group of rare autoimmune conditions characterized by inflammation and the destruction of predominantly small blood vessels. These conditions include granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and ...
Myasthenia Gravis - Rare Disease Advisor
网页Myasthenia Gravis Foundation Sets the Standard for Patient Advocacy. The Myasthenia Gravis Foundation of America (MGFA) has been a key resource for patients with myasthenia gravis (MG) and their caregivers. By Tom Bartlett, MG Contributor. August 27, 2024.
Sickle Cell Disease - Rare Disease Advisor
网页Untangling the Link Between Smoking, SCD, and PAH. By Ryner Lai, MBBS. Sickle cell disease (SCD) can lead to a host of complications, including pulmonary arterial hypertension (PAH), which can be fatal if left untreated.
Paroxysmal Nocturnal Hemoglobinuria (PNH) - Rare Disease Advisor
网页2023年11月6日 · Overview. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease of pluripotent hematopoietic stem cells. PNH is characterized by hemolytic anemia, hemoglobinuria, and symptoms such as fatigue and shortness of breath. 1-3.
Systemic Sclerosis Overview - Rare Disease Advisor
网页Systemic sclerosis (SSc), also known as scleroderma, is a rare autoimmune disease of connective tissue that causes fibrosis and vascular damage. SSc in various organs and tissues leads to a wide range of symptoms that affect quality of life and, in severe cases, may be life-threatening. The mortality rate for this disease is higher than that of ...