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 ...
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare, acquired, immune-mediated neurological disease characterized by inflammation of peripheral nerves and nerve roots with destruction of the myelin sheath, which is the fatty protective covering of the nerve fibers. This demyelination results in typical symmetrical motor and sensory weakness. 1 Both sexes can …
Cold Agglutinin Disease Patient Education - Rare ... - Rare Disease …
Cold agglutinin disease (CAD) is a type of autoimmune hemolytic anemia (AIHA). 1 In this rare disease, exposure to cold temperatures leads to the production of cold agglutinins, which bind to red blood cells and cause them to agglutinate. The immune system then induces premature hemolysis of the red blood cells and the development of cold-induced autoimmune hemolytic …
Overview of Sickle Cell Disease Types - Rare Disease Advisor
2021年11月9日 · Types. Sickle cell disease (SCD) comprises a group of inherited red blood cell disorders characterized by structural abnormalities of hemoglobin, the protein responsible for transporting oxygen in blood throughout the body. 1. In SCD, red blood cells containing abnormally structured hemoglobin are sickle-shaped and rigid, so that blood cannot ...
Cold Agglutinin Disease Signs and Symptoms - Rare Disease Advisor
Disease severity can range from mild symptoms, such as painful fingers and toes due to cold agglutinin-mediated acrocyanosis, up to catastrophic hemolysis and end organ failure in extreme cases. 2 More commonly, anemia is present to some degree in most individuals, resulting in varying degrees of fatigue, weakness, and shortness of breath.
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 ...
Rare Disease News, Perspectives & Resources - Rare Disease Advisor
Physicians presented the case of a woman with a high-risk pregnancy who showed signs of possible fetal and neonatal alloimmune thrombocytopenia (FNAIT). Investigating the Possible Relationship Between COVID-19 and AAV. By Ryner Lai, MBBS. Researchers present case reports of patients diagnosed with AAV shortly after a bout of COVID-19 infection.
Myasthenia Gravis Patient Education - Rare Disease Advisor
Myasthenia gravis (MG) is a rare neuromuscular disease. 1,2 The most common cause of MG is the presence of autoantibodies against functional and structural neuromuscular junction proteins: the acetylcholine receptor (AChR), low-density lipoprotein receptor-related protein 4 (LRP4), and receptor-associated protein muscle-specific tyrosine kinase (MuSK-Ab). 1,3,4 Despite being …
Hemolytic Disease of the Fetus and Newborn (HDFN)
Etiology. Hemolytic disease of the fetus and newborn (HDFN), also known as erythroblastosis fetalis, is an immune-mediated blood disorder affecting fetuses and neonates in which the mother’s immune system produces antibodies that attack and destroy fetal or neonatal red blood cells (hemolysis). 1,2 The etiology of HDFN involves 2 factors ...
Cystic Fibrosis Types - Rare Disease Advisor
Cystic fibrosis (CF) is an autosomal-recessive disease that results from a mutation in the CFTR gene, which codes for the cystic fibrosis transmembrane regulator (CFTR) chloride channel. CF affects more than one organ system and is associated with measurable CFTR dysfunction. Patients with evidence of CFTR dysfunction and involvement of a single organ system who do …