Overview of Sickle Cell Disease Types - Rare Disease Advisor
2021年11月9日 · 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 flow ...
Muscular Dystrophy Prognosis - Rare Disease Advisor
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies characterized by muscle weakness around the shoulder girdle and hips. There are at least 16 different genetic forms of LGMD. As the disease progresses, other muscle groups also become involved. Patients usually lose ambulation 20 to 30 years after diagnosis. 10.
Paroxysmal Nocturnal Hemoglobinuria (PNH) - Rare Disease Advisor
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.
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 ...
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 …
Pompe Disease - Acid Maltase Deficiency | Rare Disease Advisor
Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic disorder characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme (GAA).GAA normally cleaves glycogen to form glucose. Abnormalities of the GAA enzyme due to mutations in the GAA gene result in an accumulation of glycogen in tissues, especially cardiac and ...
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.
Cold Agglutinin Disease - Rare Disease Advisor
Cold agglutinin disease (CAD) is a rare autoimmune disease in which exposure to cold temperatures (usually 3-4 °C or 37-39 °F) causes the body’s immune system to attack its own red blood cells (RBCs), leading to their premature lysis. In affected individuals, B-cells produce autoantibodies, also known as cold agglutinins (CAs), which are usually of the immunoglobulin (Ig) M class that ...
Amondys 45 - Casimersen - Rare Disease Advisor
Amondys 45 TM (casimersen) is an antisense oligonucleotide indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation in the DMD gene that is amenable to exon 45 skipping. Amondys 45 TM approval was granted in February 2021, under the Food and Drug Administration Accelerated Approval Program. 1,2. DMD is an X-linked degenerative neuromuscular disease ...
Spinal Muscular Atrophy - Rare Disease Advisor
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that leads to progressive weakness and loss of movement. SMA results from the degeneration of alpha motor neurons in the anterior horn of the spinal cord. 1,2 Common symptoms include symmetrical muscle weakness, hypotonia, and muscular atrophy, typically of the proximal muscles and the lower extremities. 1