Muscular Dystrophy History - Rare Disease Advisor
The first person to report on muscular dystrophy was Sir Charles Bell, a Scottish surgeon, anatomist, physiologist, and neurologist, who wrote an essay in 1830 about a disease that led to progressive muscle weakness in boys. 1. Six years later, 2 Italian physicians, Giovanni Semmola and Gaetano Conte, wrote about 2 brothers who had symptoms of ...
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
A systematic analysis evaluates the incidence of germline mosaicism in Duchenne muscular dystrophy (DMD), as well as recurrence risks. Physicians presented the case of a woman with a high-risk pregnancy who showed signs of possible fetal and neonatal alloimmune thrombocytopenia (FNAIT). Researchers present case reports of patients diagnosed ...
Transthyretin-Mediated Amyloid Cardiomyopathy Signs and …
Transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) is a rare, potentially life-threatening condition in which abnormal folding of the transthyretin protein leads to the formation of amyloid fibrils. These fibrils accumulate extracellularly in the tissues of various organs, particularly the myocardium. 1 As the insoluble amyloid fibrils accumulate, the myocardial walls become stiff …
Primary Biliary Cholangitis Diet and Nutrition - Rare Disease Advisor
Primary biliary cholangitis (PBC) is a rare, autoimmune, inflammatory condition affecting the liver. PBC develops when the immune system attacks and destroys bile ducts inside the liver, resulting in a blockage of normal bile flow (cholestasis). Cholestasis can cause permanent scarring of the liver (fibrosis), leading to cirrhosis, elevated ...
ANCA-Associated Vasculitis Life Expectancy - Rare Disease Advisor
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 ...
Hemolytic Disease of the Fetus and Newborn (HDFN)
Overview. Hemolytic disease of the fetus and newborn (HDFN), also known as erythroblastosis fetalis, is a rare immune-mediated red blood cell (RBC) disorder in which a mismatch between mother and fetus causes maternal antibodies to attack fetal or newborn RBCs. 1 This destruction of fetal or neonatal RBCs by maternal immunoglobulin G (IgG ...
FDA Approves Crovalimab for the Treatment of PNH - Rare …
Jul 3, 2024 · The US Food and Drug Administration (FDA) has approved crovalimab-akkz (brand name, PiaSky ®) for the treatment of paroxysmal nocturnal hemoglobinuria (PNH) in adults and pediatric patients aged 13 years and older weighing at least 40 kg.. Crovalimab-akkz is a humanized monoclonal antibody produced in Chinese hamster ovary cells that acts as a …
History of Sickle Cell Disease - Rare Disease Advisor
The first case of sickle cell disease (SCD) in the United States was described in 1904 when Walter Clement Noel, a 20-year-old dental student from Grenada, sought care for anemia at Chicago Presbyterian Hospital where he met Dr. James B. Herrick (1861-1954), a cardiologist and professor of medicine. Noel experienced recurrent episodes of “muscular rheumatism” and …
Researchers Explore the Global Prevalence and Incidence of …
Oct 5, 2023 · The pooled prevalence was 4.88 per 100,000. The prevalence of Huntington disease was significantly higher in North America (8.87 per 100,000) and Europe (6.37 per 100,000) compared with Africa (0.25 per 100,000). Compared to the period between 1985 and 2010, it is clear that the incidence/prevalence of Huntington disease has risen, although ...
Myasthenia Gravis - Histology - Rare Disease Advisor
Histology. Myasthenia gravis (MG) is an autoimmune disease that affects neuromuscular transmission. Muscle weakness and fatigue are common in patients with MG due to reduced neuromuscular signaling. The dysfunction in autoimmune MG occurs due to autoantibodies targeting components of the neuromuscular junction.